Presenting Author |
Abstract Title |
Talk/Poster |
Abatti, Luis E |
Epigenetic misactivation of a novel distal enhancer drives SOX2 overexpression in multiple cancer subtypes |
poster |
Abyzov, Alexej |
CNVpytor—A tool for CNV/CNA detection and analysis from read depth and allele imbalance in whole genome sequencing |
poster |
Abyzov, Alexej |
Early developmental asymmetries in cell lineage trees in living individuals |
poster |
Aerts, Stein |
From single-cell multi-omics to gene regulatory networks and enhancer logic |
talk |
Aganezov, Sergey |
A complete human reference genome improves variant calling for population and clinical genomics |
poster |
Agarwal, Vikram |
The landscape of alternative polyadenylation in single cells of the developing mouse embryo |
poster |
Aguilar, Robin M |
Tigerfish—An efficient workflow for the design of oligonucleotide in situ hybridization probes to visualize satellite DNA |
poster |
Akter, Hosneara |
Detection of clinically relevant copy number variations and genes in a Bangladeshi cohort of neurodevelopmental disorders |
poster |
Alasoo, Kaur |
eQTL Catalogue—A compendium of uniformly processed human gene expression and splicing QTLs |
poster |
Allen, Jamie |
Non-vertebrate genome annotation in Ensembl |
poster |
Alquicira-Hernandez, Jose |
Population-scale single-cell analysis reveals cell-type specific genetic control of gene expression in immune cells |
talk |
Altemose, Nicolas F |
Genetic and epigenetic maps of endogenous human centromeres |
poster |
Alver, Maris |
Refining the genetic regulation of gene expression in schizophrenia |
poster |
Amariuta, Tiffany |
Modeling tissue co-regulation to quantify tissue-specific contributions to disease heritability and genetic correlation |
poster |
Aneas-Swanson, Ivy |
Integrated pipeline to fine-map and functionally characterize the asthma-associated variants at the IL33 locus |
poster |
Antonacci-Fulton, Lucinda |
Human Pangenome Reference Consortium Coordinating Center |
poster |
Antonio, Margaret L |
The development of present-day human population structure in Europe and the Mediterranean |
poster |
Aqil, Alber |
Genomic deletions that evolved under balancing selection in modern humans |
poster |
Ariad, Daniel |
Classifying the origins of aneuploidy to improve genetic testing |
poster |
Arvanitis, Marios |
Re-defining tissue specificity of genetic regulation of gene expression in the presence of complex allelic heterogeneity |
poster |
Asalone, Kathryn C |
A transcriptomic pipeline adapted for genomic sequence discovery of germline restricted sequence in zebra finch, Taeniopygia guttata |
poster |
Atanur, Santosh |
De novo mutations in fetal brain enhancers play role in intellectual disability |
poster |
Aulchenko, Yurii |
Omingenic model through a lens of genetics of protein N-glycosylation |
poster |
Avalos, Diana |
Genetic variation in cis regulatory domains and trans regulatory hubs of immunity |
poster |
Baduel, Pierre |
Genetic and environmental modulation of transposition shapes the evolutionary potential of Arabidopsis thaliana |
poster |
Baggs, Erin L |
Evolution and diversity of immune sensing in plants—Lessons from minimal immunity models |
talk |
Bailey, Matthew H |
Combined molecular characterization and functional drug-responses in advanced cancer organoids enhance transcriptomic and genomic biomarker discovery for investigational therapeutics |
talk |
Band, Gavin |
Evidence for genetic interaction between humans and malaria parasites in west and east Africa |
talk |
Banerjee, Abhimanyu |
Deep learning models of 422 C2H2—Zinc Finger transcription factor binding profiles reveal alternative DNA binding sequence preferences via combinatorial use of zinc fingers |
talk |
Banovich, Nicholas E |
Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with local ancestry and archaic introgression |
poster |
Banovich, Nicholas E |
Multi-modal single cell profiling of GBM patients treated with CAR T cell therapy to elucidate molecular mechanisms of variation in treatment response |
talk |
Baums, Iliana |
Genomic signatures of biased introgression in F1 coral hybrids |
talk |
Becker, Timothy J |
Structural variation genotyping by feature moment based convolutional neural networks |
poster |
Belleau, Pascal |
Quantifying similarity between copy number profiles with CNVMetrics package |
poster |
Benjamin, Kynon J M |
Genetic and environmental regulation of caudate nucleus transcriptome—Insight into schizophrenia risk and the dopamine system |
poster |
Berthelot, Camille |
An atlas of duplicated fish genomes to investigate genome evolution after polyploidization |
poster |
Boix, Carles |
Single-cell temporal and spatial dissection of Alzheimer’s disease progression across multiple brain regions |
talk |
Bonora, Giancarlo A |
Single-cell landscape of nuclear configuration and gene expression during stem cell differentiation and X inactivation |
poster |
Botvinnik, Olga |
Single-cell transcriptomics for the 99.9% of species without reference genomes |
poster |
Boukas, Leandros |
Purifying selection acts on germline DNA methylation to modify the CpG mutation rate at promoters |
poster |
Bousquets, Pablo |
PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in the spliceosome U2 small nuclear RNA |
poster |
Bracht, John R |
Understanding the role of MANF / ARMET in the stress response of the subterrestrial nematode Halicephalobus mephisto |
poster |
Bredemeyer, Kevin R |
Single haplotype genome assemblies reveal remarkable rates of X-linked satellite evolution and a role in reproductive isolation. |
poster |
Brenner, Steven |
The role of exome sequencing in newborn screening |
poster |
Brunson, Timothy J |
Idg.reactome.org—A web-based platform for visualizing dark proteins in the context of Reactome pathways |
poster |
Buckley, Reuben M |
Best practices for analyzing imputed genotypes from low-pass sequencing in dogs |
poster |
Bultmann, Sebastian |
Global DNA demethylation waves in early mammalian development—A Stella innovation? |
poster |
Byers, Candice |
Genetic control of the pluripotency epigenome determines differentiation bias in mouse embryonic stem cells |
poster |
Cai, Haoran |
Reconstructions of dynamic transcriptional regulatory networks via temporal correlations robustly reveal coherence of regulatory activities upon environmental perturbations |
poster |
Campbell, C. Ryan |
Social behavioral control of cell-to-cell gene expression variance in rhesus macaque immune cells |
poster |
Campoy Garcia, Maria Elena |
Human polymorphic inversions—Origin, selective constraints and relationship with functional elements |
poster |
Cao, Xiaolong |
A massive proteomics screen of transcripts from diverse tissues identifies thousands of noncanonical coding sequences |
poster |
Capellini, Terence D |
Joint disease phenotypic specificity at the regulatory base-pair level |
poster |
Capellini, Terence D |
The developmental genetic impacts of natural selection on human hindlimb morphology |
poster |
Carioscia, Sara A |
Haplotype phasing, genotype imputation, and mapping of meiotic crossovers from sparse gamete sequencing data |
poster |
Castillo Siri, Andreina I |
Global trends in homologous recombination in a bacterial plant pathogen |
poster |
Castro-Pacheco, Nathan C |
Cross-species alternative isoform usage in BICCN brain cell types |
poster |
Castro-Pacheco, Nathan C |
Quantifying isoform expression in single-cell RNA-seq data with STARsolo-Quant |
poster |
Cavassim, Maria Izabel A |
The evolution and co-evolution of PRDM9 across vertebrates |
poster |
Chan, Tsz-Fung |
Estimating heritability explained by local ancestry and evaluating confounding bias in admixture mapping from summary statistics |
poster |
Chari, Tara |
Whole animal multiplexed single-cell RNA-seq reveals plasticity of Clytia Medusa cell types |
talk |
Chen, Benson |
Discovery and functional characterization of pro-growth enhancers in human cancer cells |
poster |
Chen, He |
Cell-type specific mapping of the epigenomic landscape of rare renal cells |
poster |
Chen, Huidong |
SIMBA—Single cell embedding along with features |
poster |
Cheng, YuHsuan |
Genome plasticity in Paramecium bursaria revealed by population genomics |
poster |
Chiang, Zachary D |
In situ genome sequencing resolves DNA sequence and structure in intact biological samples |
talk |
Chiou, Kenneth L |
Adaptations to high altitude in the gelada genome |
poster |
Chlenski, Philippe |
Peak-to-trough ratio analysis reveals novel associations with microbial dynamics in liver transplant patients |
poster |
Chouvardas, Panagiotis |
Systematic discovery and characterization of cis-regulatory long noncoding RNAs |
poster |
Chu, Tin Yi |
A Bayesian cell-type deconvolution and gene expression inference for bulk RNA-seq and spatial transcriptomics |
talk |
Cohn, Rachel |
Investigation of TNNT2 genetic variants in heart failure |
poster |
Corbett, Sybilla |
A new human genome screen catalogue |
poster |
Corbett-Detig, Russ |
Pandemic phylogenetics—Maintaining a real-time, comprehensive phylogeny of all SARS-CoV-2 genomes |
poster |
Costa Monteiro Moreira, Gabriel |
Live (epi)genomic battle between unfixed transposable elements and their cognate piRNA clusters in cattle testes |
talk |
Craig, Sarah J |
Metabolomic profiling of stool of two-year old children from the INSIGHT study reveals links between butyrate and child weight |
poster |
Daane, Jacob |
Comparative phylogenomics in fishes to identify genetic mechanisms of evolution, development, and disease |
poster |
Das, Maitreya |
Direct assessment of impact of transcription factors on enhancer activity |
poster |
Daunesse, Maelle |
Mitochondrial heteroplasmy in chemically induced mouse liver tumours |
poster |
Davtian, David |
Discovery of type 2 diabetes genes using an accessible tissue |
poster |
de Boer, Carl G |
A comprehensive fitness landscape model reveals the evolutionary history and future evolvability of eukaryotic cis-regulatory DNA sequences |
talk |
Di Sera, Tonya |
Predicting exceptional responders to cancer drugs—A deep learning model that generalizes beyond cell lines |
poster |
Diesh, Colin M |
JBrowse 2—An extensible platform for genome data visualization |
poster |
Donegan, Monica |
Gene gain and loss is linked to host jumps in a plant pathogen |
poster |
Drury, Austin |
Modeling recombination rate as a quantitative trait reveals new insight into selection in humans |
poster |
Dupuis, Theo |
Quantifying the shared genetic effects on the regulation of expression and protein levels using related and unrelated individuals |
poster |
Ebersberger, Ingo |
The evolutionary trajectory of Acinetobacter pathobiology |
poster |
Edwards, Scott V |
Convergent evolution of gene expression and chromatin accessibility in flightless birds (Palaeognathae) |
talk |
Emani, Prashant S |
PLIGHT—A tool to assess privacy risk by inferring identifying characteristics from sparse, noisy genotypes |
poster |
Enard, Wolfgang |
TRNP1 sequence, function and regulation co-evolve with cortical folding in mammals |
poster |
Erwin, Graham S |
A survey of recurrent repeat expansions in human cancer genomes |
poster |
Esposito, Roberta o |
Cancer cells refine their fitness via function-altering mutations in long noncoding RNAs |
poster |
Felker, Stephanie A |
Characterizing poison exons and their role in neurodevelopmental disorders |
poster |
Flot, Jean-François |
GraphUnzip—Unzipping GFAs to obtain fully phased assemblies |
poster |
Flot, Jean-François |
PCI Genomics—A free and transparent recommendation platform for preprints in genomics |
poster |
Fogel, Arielle S |
Behavioral barriers to gene flow shape the admixture landscape of the baboon genome |
poster |
Foley, Nicole |
Adaptive introgression and chromosome architecture facilitated the evolution of viral tolerance in the largest extant bat radiation |
poster |
Fraser, Hunter |
Human-chimpanzee hybrid stem cells as a platform for exploring human evolution |
talk |
Furlong, Eileen |
Dissecting function in the regulation of developmental trajectories |
talk |
Gacesa, Ranko |
The Dutch Microbiome Project defines factors that shape the healthy gut microbiome |
poster |
Gaiti, Federico |
Deciphering the epigenetic encoding, heritability, and plasticity of transcriptional cancer cell states via single cell multi-omics |
talk |
Galupa, Rafael |
Inversion of a topological domain leads to restricted changes in its gene expression and affects inter-domain communication |
poster |
Gao, Dadi |
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders |
poster |
Garcia-Perez, Raquel |
The landscape of splicing and expression variation across human phenotypes |
poster |
Gazal, Steven |
Optimal combination of SNP-to-gene linking strategies pinpoints disease genes and informs disease gene-architecture |
poster |
Gazda, Malgorzada |
Molecular parallelisms between pigmentation in the avian iris and the integument of ectothermic vertebrates |
poster |
Genzor, Pavol |
Aberrant germline genes in-action? |
poster |
Georges, Michel |
Combined analysis of single cell RNA-Seq and ATAC-Seq data reveals regulatory toggles operating in native and iPS-derived retina |
poster |
Georges, Stephanie |
Oncogene.iobio—A visually-rich, interactive web tool for examining and prioritizing cancer genomic alterations |
poster |
Gershman, Ariel |
Long reads reveal epigenetic patterns from telomere to telomere |
poster |
Ghosh, Avantika |
Chimeric oligonucleotides containing guide RNA sequence and single-stranded DNA repair template effectively induce precision gene editing in mammalian cells |
poster |
Giacomello, Stefania |
Unveiling spatial host-microbiome profiles by applying spatial transcriptomics |
poster |
Gilmore, Rachel B |
Understanding repression of maternal 15q11-q13 |
poster |
Girard, Simon |
A study of the genetic structure of three founder populations |
poster |
Girgis, Hani Z |
Identity—A fast intelligent software tool for calculating pairwise sequence alignment identity scores without aligning sequence pairs |
poster |
Gokcumen, Omer |
Sex-specific phenotypic effects and evolutionary history of an ancient polymorphic deletion of the human growth hormone receptor |
poster |
Gonzalez del Rosa, Pablo Manuel |
New ends with new technology—Chromosome diminution in Oscheius nematodes |
poster |
Gozashti, Landen |
A systematic search across eukaryotic genomes suggests unified proximate and ultimate models of de novo intron creation |
poster |
Grimes, Karen |
scNOVA—Haplotype-aware single-cell multiomics identifies direct consequences of structural variants in cancer |
talk |
Guarracino, Andrea |
The PanGenome Graph Builder |
poster |
Guerin, Megan N |
The mitochondrial genome of the devil worm reveals evolutionary adaptations to hypoxia |
poster |
Guiblet, Wilfried M |
Selection and thermostability at G-quadruplex loci in the human genome |
poster |
Gupta, Akshi |
Ortholog replacement reveals a novel function of the transcription factor TFIIIC complex in mitotic chromosome segregation |
poster |
Gutierrez, Monica |
The epigenomic landscape of hematopoietic stem cell myeloid skewing in aging |
poster |
Haase, Astrid |
Two classes of piRNAs separate silence from diversity |
poster |
Haba, Yuki |
The genomic status and evolutionary history of Culex pipiens mosquito ecotypes |
poster |
Halgren, Alma S |
Signatures of convergent evolution and local adaptation at structural variants in chimpanzees and humans |
poster |
Hanks, Sarah |
Effect of ancestry on extent to which array genotyping and imputation with large reference panels can replace deep genome sequencing |
poster |
Hansen, Grace |
Female waist-to-hip ratio is regulated by a recently-evolved gene network that affects adipogenesis |
poster |
Hardison, Ross |
Systematic integration of epigenomic landscapes in mouse and human blood cells to predict activity of regulatory elements |
poster |
Harris, Andrew J |
Tree House Explorer—A novel genome browser for phylogenomics |
poster |
Harris, Kelley |
Discovery of a quantitative trait locus for the germline mutation rate in mice |
talk |
Hart, Samuel F |
Genome evolution of soft-shell clam transmissible cancer |
talk |
Hawsawi, Yousef M |
Novel genetic variants that associated with Alport syndrome in Saudi population |
poster |
He, Yuan |
Multi-study chromatin accessibility QTL mapping reveals global and context-specific regulatory mechanisms to improve GWAS interpretation |
talk |
Hirschi, Owen R |
Whole genome sequencing and analysis of the BASIC3 childhood cancer cohort |
poster |
Hong, Clarice |
Modularity between chromosomal environments and diverse core promoters |
talk |
Hou, Lei |
Multi-tissue epigenomic variation across 435 GTEx samples helps interpret brain, heart, muscle, and lung disease genetics |
poster |
Hoyt, Savannah |
From telomere to telomere—Characterizing the transcriptional and epigenetic state of repeat elements |
poster |
Hu, Zhiqiang |
Biological discovery and consumer genomics databases activate latent privacy risk in functional genomics data |
poster |
Hung, King L |
Extrachromosomal oncogene amplifications contribute to cancer cell heterogeneity |
poster |
Hung, Yu-Han Amy |
Integrative genomic analysis uncovers candidate roles for microRNAs in early gut development using a human organoid model |
poster |
Ietswaart, Robert |
GeneWalk identifies relevant gene functions for a biological context using network representation learning |
poster |
Iyer, Shruti V |
Understanding genetic variation in cancer using nanopore targeted sequencing |
poster |
Janko, Karel |
Genome fractionation and loss of heterozygosity in hybrids and polyploids—Mechanisms, consequences for selection, and link to gene function |
poster |
Jansen, Camden S |
Semi-supervised machine learning approaches to understanding hematopoietic cell decisions |
poster |
Jansma, Abel |
Complex gene regulation—Higher-order interactions in single cell expression data |
poster |
Jensen, Sarah |
Building a thermal adaptation profile for plant genomes |
poster |
Jeon, Eun Young |
ZNF750 loss of function contributes to acanthotic type of seborrheic keratosis |
poster |
Jiang, Jiayue-Clara |
Integrated transcription factor binding and transcriptomic analysis revealed LINE1 retrotransposons as prominent contributors of regulatory activity in breast cancer |
poster |
Jiang, Pengyao |
A modified fluctuation assay reveals a natural mutator phenotype that drives mutation spectrum variation within Saccharomyces cerevisiae |
poster |
Jighly, Abdulqader |
Modernizing conventional mathematical models in agriculture—With potential applications in personalized medicine |
poster |
Johnson, Rory |
CRISPR, cancer and long noncoding RNAs |
poster |
Judd, Jon |
Regulatory architecture underlying lipid biology in 1.7 million individuals of diverse ancestry |
poster |
Jungreis, Irwin |
SARS-CoV-2 gene content and COVID-19 mutation impact by comparing 44 Sarbecovirus genomes |
poster |
Kamber, Roarke |
Systematic identification and characterization of novel regulators of antibody-dependent cancer cell phagocytosis |
poster |
Kamberov, Yana G |
The repeated mutation of a developmental enhancer underlies human thermoregulatory evolution |
talk |
Karan, Kalpita R |
Mitochondrial DNA insertions in the nuclear genome during human aging |
poster |
Karbalayghareh, Alireza |
Chromatin interaction aware gene regulation model with graph neural networks |
poster |
Karlsson, Kasper |
Experimental evolution in organoids reveals subclonal dynamics and molecular determinants of gastric tumorigenesis |
talk |
Keller, Ashleigh |
CRISPR-mediated transcriptional repression with a novel dCas9 fusion protein and synthetic guide RNAs |
poster |
Kemper, Kathryn |
Genetic control of intra-individual variability |
poster |
Kenney, Ana Maria |
Constructing a polygenic risk score for childhood obesity using functional data analysis |
poster |
Kentepozidou, Elissavet |
Mutational landscape of transcription factor binding sites in chemically-induced liver tumours |
poster |
Khokhar, Eraj S |
Noise to signal—exploring the landscape of noisy splicing |
poster |
Khurana, Ekta |
Construction of patient-specific gene regulatory networks reveals novel enhancers regulating key cancer genes |
poster |
Kitzman, Jacob O |
Massively parallel functional classification of missense variants in Lynch syndrome |
poster |
Kliesmete, Zane |
Effect of pleiotropy on regulatory sequence evolution |
poster |
Kolora, Rohit |
Origins and evolution of extreme lifespan in the adaptive radiation of Pacific rockfish |
poster |
Korsunsky, Ilya |
Cross-tissue, single-cell stromal atlas identifies shared pathological fibroblast phenotypes in four chronic inflammatory diseases |
poster |
Korunes, Katharine |
Sex-biased admixture and assortative mating shape genetic variation and influence demographic inference in admixed Cabo Verdeans |
poster |
Kragesteen, Bjoert |
Hypoxia adaptation in the Tibetan population unravels the identity and regulation of Epo-producing renal cells |
poster |
Krasnitz, Alexander |
Accurate inference of genetic ancestry from cancer-derived data |
poster |
Kumar, Vivek |
Multi-omics data driven modeling of plants, microbes and their communities—Next generation biological research using KBase |
poster |
Kwon, Young |
Genetics of domestication in betta fish |
talk |
LaBella, Abigail L |
Characterization of the evolutionary forces acting on genomic regions associated with >500 human complex traits |
poster |
Lariviere, Delphine |
Mother and child methylation profiles at birth linked to early childhood obesity |
poster |
Lascano Maillard, Josefina |
The effect of mitochondrial population genome variation on nuclear gene expression |
poster |
Lee, Hayan |
Multi-faceted epigenetic dysregulation of gene expression promotes esophageal squamous cell carcinoma |
poster |
Lee, Nicholas |
Representation learning of genomic sequence motifs via information maximization |
poster |
Lee, Young-Lim |
Pedigree-based de novo rate estimation for structural variation in the cattle germline |
poster |
Lencz, Todd |
Utility of polygenic embryo screening for disease depends on the selection strategy |
poster |
Lengerich, Benjamin |
Bayesian probabilistic graphical models for learning 10,000 single-cell regulatory networks in adult mouse brain |
poster |
Ley, Ruth |
Codiversification of gut microbes and their human hosts |
talk |
Li, Chang |
MetaRNN—Differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning |
poster |
Li, Ruoxin |
Deep representation learning for measuring variation in gene co-expression networks in Alzheimer’s disease |
poster |
Li, Xinzhe |
Enrichment of heritability in neuron electrophysiology genes across mental disorders |
poster |
Li, Xue |
Investigating the genetics of social behavior in wolf-dog hybrids |
poster |
Li, Yuanning |
Rooting the animal tree of life |
poster |
Liang, Minggao |
Genome-wide characterization of gene regulatory networks and cis-regulatory mechanisms during the acute phase response |
poster |
Liang, Yanyu |
BrainXcan—Associating genetically predicted image-derived phenotypes with complex traits to inform their biology |
poster |
Liu, Dang |
Assessing human genome-wide variation in the Massim region of Papua New Guinea and implications for the Kula trading tradition |
poster |
Liu, George |
Single-cell transcriptomic analyses of dairy cattle ruminal epithelial cells during weaning |
poster |
Liu, Zian |
Structural underpinnings of mutation rate variations and regulatory site polymorphisms in the human genome |
poster |
Logsdon, Glennis A |
Telomere-to-telomere assembly of human chromosome 8 and the rapid evolution of centromeres |
poster |
Lopera, Esteban A |
Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project |
poster |
Lopez Hernandez, Jose F |
Natural variation of mating phenotypes impact the spread of selfish meiotic drivers |
talk |
Lu, Shaina |
Assessing the replicability of spatial gene expression using atlas data from the adult mouse brain |
poster |
Luebeck, Jens |
Extrachromosomal DNA in HPV-mediated oropharynx cancer is a driver of viral-human hybrid oncogene transcription |
talk |
Lunde, China |
Improved ‘Kronos’ wheat assembly using ONT Nanopore long-read sequencing for functional genomics |
poster |
Luo, Yang |
Genome-to-genome analysis identifies the effect of the host immune systems on Mycobacterium tuberculosis and its impact on clinical outcomes |
poster |
Lykoskoufis, Nikolaos |
The interplay between regulatory variants, transposable elements and gene expression in the context of colorectal cancer |
poster |
Lypaczewski, Patrick |
Interspecies hybridization with Leishmania donovani is associated with human cutaneous leishmaniasis |
poster |
Ma, Li-Jun |
Transposable elements drive adaptive evolution in the cross-kingdom fungal pathogen Fusarium oxysporum |
poster |
MacMillan, Hannah |
High throughput analysis of circular forms of ANRIL, a lncRNA in the CDKN2A/B locus with implications in metabolic disease |
poster |
Majdandzic, Antonio |
Correcting gradient-based attribution methods for neural networks in genomics |
poster |
Martorella, Molly |
Optimization of low cost, noninvasive RNA-sequencing to enable massive scaling of transcriptome studies |
poster |
Maude, Hannah |
High-resolution mapping of human liver regulomes |
poster |
McCarroll, Steven A |
Protein repeat polymorphisms shape diverse human phenotypes |
talk |
Mead, Matthew |
An evolutionary genomic approach reveals both conserved and species-specific genetic elements related to human disease in closely related Aspergillus fungi |
poster |
Mitchell, Jennifer A |
A flexible repertoire of transcription factor binding sites and diversity threshold determines enhancer activity in mammalian genomes |
talk |
Mo, Ziyi |
SIA—Selection Inference using the Ancestral recombination graph |
poster |
Moffitt, Andrea |
MASQ—Ultrasensitive measurement of tumor load in cell-free DNA and its application to monitoring response in pancreatic cancer |
poster |
Moorjani, Priya |
Investigating the sources of variation in mutation spectra in human evolution |
talk |
Morris, Derek |
Identification of 13 independent genetic loci associated with cognitive resilience in healthy aging in 330,097 individuals in the UK Biobank |
poster |
Morris, John A |
Discovery of target genes and pathways of blood trait loci using pooled CRISPR screens and single cell RNA sequencing |
poster |
Morrissey, Alexis |
Accurately and efficiently rescuing multi-mapped reads in ChIP-seq analysis pipelines |
poster |
Munoz, Manuel |
Spatial deconvolution of gene expression from paired samples of bulk RNA-seq and histological images with deep learning |
poster |
Munusamy, Prabhakaran |
Joint profiling of cynomolgus testicular germ cells reveals gene regulatory networks in spermatogonia |
poster |
Murphy, Terence |
Annotating genomes at NCBI RefSeq in the era of 3rd generation sequencing |
poster |
Muthuirulan, Pushpanathan |
The regulatory control of height variation at anatomical site-specific resolution |
poster |
Myers, Alexandra |
An ancient haplotype containing antimicrobial peptide genes is associated with severe fungal skin disease in Persian cats |
poster |
Nair, Surag |
Single-cell chromatin and expression dynamics of human somatic cell reprogramming |
poster |
Naqvi, Sahin |
Shared heritability of human face and brain shape |
poster |
Nekrutenko, Anton |
Genome assembly on global scale—Democratizing VGP workflows |
poster |
Nepper, Julia F |
Genetic regulation of soil microbe biofilm formation in response to sublethal antibiotic treatment |
poster |
Novikova, Gloriia |
Integration of Alzheimer's disease genetics, myeloid cell genomics and gene regulatory networks reveals novel disease risk mechanisms |
poster |
Nurk, Sergey |
Assembling the complete sequence of a human genome |
poster |
Nyasimi, Festus |
Sparse penalty yields improved prediction models of metabolites in a Hispanic population |
poster |
Oggenfuss, Ursula |
Invasion routes of transposable elements across the genome of a fungal pathogen |
poster |
Oguchi, Akiko |
Single-cell enhancer identification reveals genetic and evolutionary diversity of human diseases |
poster |
O'Neill, Mary B |
Population differences in epigenetic and transcriptional responses to challenge by RNA viruses at the single-cell level |
talk |
Page, Stephanie C |
Electrophysiological characteristics of human iPSC-derived neurons across diagnosis, clinical symptoms, and cognition in schizophrenia |
poster |
Pal, Soumitra |
Modeling gene expression evolution with EvoGeneX uncovers differences in evolution of species, organs and sexes |
poster |
Pallares, Luisa F |
Diet unmasks genetic variants that regulate lifespan in outbred Drosophila |
talk |
Pampari, Anusri |
Base-resolution deep learning models of chromatin state reveal heterogeneous cis-regulatory sequence motif syntax and functional regulatory variation |
talk |
Pan, Joshua |
Representations of gene function from fitness screen collections |
poster |
Park, Eddie |
Genetic variation and microRNA targeting of A-to-I RNA editing fine tune human tissue transcriptomes |
poster |
Parrish, Phoebe C |
Discovery of synthetic lethal and tumor suppressive paralog pairs in the human genome |
poster |
Paulini, Kayla |
Using CRISPR-Cas9 technology to study Leishmania donovani virulence factors |
poster |
Peneder, Peter |
Accurate detection and classification of pediatric sarcomas based on cell-free DNA fragmentation patterns inferred from whole genome sequencing |
poster |
Peree, Helene |
Comparative analysis of ultra-low input RNA sequencing methods for the study of rare immune cell populations |
poster |
Phan, Lon |
NCBI ALFA Release 2 for 900 million variants from 200K subjects |
poster |
Phillips, Megan A |
Examination of gene loss in the DNA mismatch repair pathway and its mutational consequences in a fungal phylum |
poster |
Pietrzak, Stefan |
Establishing the role of essential enhancers in somatic cell reprogramming |
poster |
Pineda, Sebastian |
Single-cell dissection of ALS and FTLD in human primary motor cortex |
poster |
Pinglay, Sudarshan |
Synthetic genomic reconstitution reveals principles of mammalian Hox cluster regulation |
talk |
Plassais, Jocelyn |
Natural and human driven-selection of a single non-coding body size variant in ancient and modern canids |
poster |
Popadin, Konstantin |
A billion-year trend of amino acid substitutions in the mitochondrial genome |
poster |
Popp, Joshua |
Single-cell sequencing reveals lineage-specific, dynamic effects of genetic variation on gene expression during cardiomyocyte differentiation |
poster |
Pott, Sebastian |
A single cell multi-modal atlas of the human heart facilitates interpretation of the genetic architecture of complex traits |
poster |
Pouryahya, Fatemeh |
Paired terminals in unlabelled trees and inferences about autopolyploids |
poster |
Priya, Sambhawa |
Shared and disease-specific host gene-microbiome interactions across human diseases |
talk |
Putman, Audrey |
Epigenetic mechanisms and phenotypic plasticity in the adaptation of a vertebrate model system to novel environments |
poster |
Ramisch, Anna |
Dynamics of gene regulatory organization based on longitudinal twin RNA-seq |
poster |
Rampino, Antonio |
Polygenic risk for schizophrenia and metabolic syndrome interact on metabolic phenotypes in patient with schizophrenia treated with antipsychotics |
poster |
Randolph, Haley E |
Single-cell RNA-sequencing reveals pervasive but highly cell type-specific genetic ancestry effects on the response to viral infection |
talk |
Rauluseviciute, Ieva |
Identification of transcription factor co-binding partners using non-negative matrix factorization |
poster |
Réal, Aline |
Population-based transcriptome profiling using long-read sequence to dissect the interplay between genetic variant and transcript variation |
poster |
Reales, Guillermo |
Genetic feature engineering on blood cell traits to characterise the genetic architecture of immune-mediated diseases |
poster |
Regev, Aviv |
A single-cell and spatial atlas of autopsy tissues reveals pathology and cellular targets of SARS-CoV-2 |
talk |
Reisinger, Raquel M |
A probabilistic graphical model (PGM) to identify patients with undiagnosed Mendelian diseases using pedigrees and electronic medical records (EMRs) |
poster |
Ribeiro, Diogo M |
Comparison of local gene co-expression patterns across dozens of individuals using single-cell RNA-sequencing |
poster |
Riudavets Puig, Rafael |
UniBind—Maps of high-confidence direct TF-DNA interactions across nine species |
poster |
Rokhsar, Daniel |
Genome tectonics and the evolution of metazoan chromosomes |
poster |
Rose, Noah H |
Mosquito evolution and emerging disease in the human era |
poster |
Roura Canalda, Adria-Jaume |
Identification of transcription factor binding sites in human glioblastoma cell lines using high-throughput chromatin-accessibility profiling, transcriptomics and epigenetics |
poster |
Roy, Scott |
Sex chromosomal transformation and the origins of a male-specific X chromosome in the creeping vole, Microtus oregoni |
poster |
Russell, Pamela |
BioCantor—A Python library for feature arithmetic in arbitrarily nested coordinate systems |
poster |
Ruzicka, Brad |
Single-cell dissection of schizophrenia reveals neurodevelopmental-synaptic axis and subpopulation specific pathologies |
poster |
Sahin, Merve |
HiC-DC+—Systematic 3D interaction calls and differential analysis for Hi-C and HiChIP |
poster |
Salas-Leiva, Dayana |
A free-living protist with non-canonical DNA replication and segregation systems |
poster |
Salichos, Leonidas |
Genetic determination of regional connectivity in modelling the spread of COVID-19 outbreak for improved mitigation strategies |
poster |
Salzman, Julia |
SRNA splicing programs define tissue compartments and cell types at single cell resolution |
poster |
Sanborn, Adrian L |
Simple biochemical features underlie transcriptional activation domain diversity and dynamic, fuzzy binding to Mediator |
poster |
Sanghi, Akshay |
A chromatin basis for protein-RNA correlation in human cancer |
poster |
Santhanam, Natasha |
The genetic architecture of genome-scale metabolic networks |
poster |
Sartori, Ambra |
Extreme expression haplotypes revealed regulatory effects on gene expression linked to traits and footprints of positive selection |
poster |
Sasani, Thomas A |
Discovery of a quantitative trait locus for the germline mutation rate in mice |
poster |
Schatz, Michael |
Streamlining accessibility and computability of large-scale genomic datasets with the NHGRI genome data science Analysis, Visualization, and Informatics Lab-Space (ANVIL) |
poster |
Scheben, Armin |
Unraveling molecular mechanisms of immunity and cancer-resistance using the genomes of two Neotropical bats |
poster |
Scheinfeldt, Laura |
The NHGRI Sample Repository for Human Genetic Research—Publicly available biospecimens and a new genomic data search tool |
poster |
Scheller, Ines F |
OUTRIDER2—A generalized framework for context-dependent outlier detection in omics data |
poster |
Schneider, Valerie A |
NCBI Datasets—Get the genome-related data you want, the way you want |
poster |
Scholl, Suzy M |
Genetic alterations in relation to pharmacological profiles in 10 cervical cancer cell lines |
poster |
Schubert, Olga T |
Genome-wide survey of mutations influencing protein abundances in yeast |
poster |
Scott, Laura J |
Single nucleus resolution chromatin profiling and RNA-seq in skeletal muscle across 287 individuals reveals differential DNA accessibility and gene expression by sex, age, and T2D-related traits |
poster |
Serna Duque, John Alberto |
Evolutive and genomic history of a piscine host defence peptide—A new world for hepcidins in teleost fish |
poster |
Serrano, Isabel |
Tissue-type and genotype influence mitochondrial somatic mutations in aging |
poster |
Sharma, Tripti |
Generation of murine lineage tracing strains using CRISPR |
poster |
Shelansky, Robert |
Add-Seq—A technique to investigate primary chromatin structure in single cells |
poster |
Shi, Alvin |
Enhancer reprogramming in melanoma immune checkpoint therapy resistance |
poster |
Shulgina, Yekaterina |
A computational screen for alternative genetic codes in over 250,000 genomes |
poster |
Sigalova, Olga |
Quantitative analysis of the functional impact of genetic variation on transcription factor binding during embryogenesis |
poster |
Singh, Param P |
Evolution of 'suspended animation' in the African killifish by remodeling ancient gene regulatory landscape |
poster |
Skob, Laurits |
Genetic analysis of 17 Neandertals from two sites in the Altai mountains |
poster |
Smirnov, Dmitrii |
Multi-omics integration increases the diagnostic rate of Mendelian disorders |
poster |
Smith, Cathy |
Massively parallel minigene assays identify splice disruptive variants in human disease genes |
poster |
Sobreira, Debora |
Pleiotropic phenotypic effects underlying the association of TCF7L2 and T2D in humans |
talk |
Song, Dongyuan |
scPNMF—Sparse gene encoding of single cells to facilitate gene selection for targeted gene profiling |
poster |
Song, Mengyi |
GATA4/5/6 family transcription factors are conserved determinants of cardiac versus pharyngeal mesoderm fate |
poster |
Sonmezer, Can |
Molecular co-occupancy identifies transcription factor binding cooperativity in vivo |
poster |
Spangler, Abby |
Identifying layer-specific gene expression using spatial RNA-seq on post-mortem human dorsolateral prefrontal cortex |
poster |
Spealman, Pieter |
Transcriptional and translational dosage compensation of adaptive copy-number variants |
poster |
Staller, Max V |
A simple and accurate predictor of transcriptional activation domains in the human proteome |
poster |
Stankiewicz, Kathryn H |
Using the Astrangia poculata genome as a model for understanding cnidarian evolution and symbiosis |
poster |
Steenwyk, Jacob L |
A gene coevolution network maps eukaryotic cellular and genomic organization, structure, and function |
poster |
Stoyko, Daniel |
Characterization of piRNA 3’-ends |
poster |
Strober, Benjamin |
Uncovering latent context-specific genetic regulation of gene expression from single-cell RNA-sequencing |
poster |
Sun, Na |
Single-cell human-specific cerebrovasculature zonation in health and disease |
poster |
Sundaram, Vasavi |
The landscape of regulatory mutations during chemical carcinogenesis |
poster |
Surm, Joachim M |
Dominant toxin hypothesis—Disentangling the evolution of venom as a complex trait |
poster |
Tak, Esther |
Genome-wide functional perturbation of GGAA microsatellite repeats using engineered zinc finger transcription factors |
poster |
Tan, Longzhi |
Mapping the dynamics of the linear and 3D genome of single cells in the developing brain |
poster |
Tang, Lijing |
Evidence for inter-individual variation of ERV de novo transposition rate in the male cattle germline |
talk |
Tanigawa, Yosuke |
Atlas of sparse polygenic risk scores in UK Biobank |
poster |
Tarapcsak, Szabolcs |
Model-based cancer therapy selection by linking genomic and transcriptomic tumor vulnerabilities to drug mechanism |
poster |
Taylor, Gunes |
The role of FOXL2 in chicken primary gonadal sex determination |
poster |
Terlecki-Zaniewicz, Stefan |
Interplay of oncogenic fusions and cellular context in sarcoma |
poster |
Theis, Fabian |
Modeling cellular state and dynamics in single cell genomics |
talk |
Thibaud Nissen, Francoise |
The NCBI tool suite for prokaryotic genomes—How RAPT, SKESA and PGAP can accelerate your research |
poster |
Thornton, Casey A |
An atlas of glial chromatin accessibility in the human cortex and hippocampus |
poster |
Tomaszkiewicz, Marta |
Unraveling isoform diversity of multi-copy ampliconic genes on the Y chromosomes in humans and other great apes |
poster |
Torres Ulloa, Leslie |
Estimating the kinetics of mRNA 3’ end cleavage |
poster |
Torres-Sanchez, Maria |
How to become a multi-host pathogen? Gene expression plasticity and molecular evolution of an amphibian panzootic pathogen |
poster |
Tran, Linh N |
Inferring demographic history with supervised machine learning methods using allele frequency spectrum (AFS) |
poster |
Trigila, Anabella |
Comparative genomics sheds light on mammalian and avian regulatory evolution |
poster |
Tripathy, Rohit K |
Higher-order convolutions improve the performance of deep learning models for genomics |
poster |
Tuggle, Christopher |
An immune cell atlas of porcine peripheral blood mononuclear cells—Transcriptomic heterogeneity revealed through combining bulk and single-cell RNA sequencing |
poster |
Urban, Lara |
Quantitative genomic analyses support the conservation of the critically endangered kākāpō |
talk |
Varshney, Arushi |
Single nucleus skeletal muscle chromatin and gene expression profiling across 287 individuals reveals cell type-specific genetic regulatory architectures at T2D GWAS loci |
talk |
Velten, Lars |
Targeted Perturb-seq enables genome-scale genetic screens in single cells |
talk |
Veres, Adrian |
Identifying genetic regulators of endocrine and beta cell in vitro differentiation via genome-wide loss-of-function screening |
poster |
Vernot, Benjamin |
Human history from DNA in sediments |
talk |
Vierstra, Jeff |
Connecting regulatory variants to target genes via genetically resolved RNA transcription and DNA accessibility |
poster |
Vinuela, Ana |
Genetic analysis of blood molecular phenotypes reveals regulatory networks affecting complex traits—A DIRECT study |
poster |
Vollger, Mitchell R |
Segmental duplications and their variation in a complete human genome |
poster |
von Maydell, Djuna |
Deep learning spatial augmentation of single-cell transcriptomic data |
poster |
Wang, Anyou |
Distinctive functional regime of endogenous lncRNAs in dark regions of human genome |
poster |
Wang, Daoming |
Metagenome-wide structural variation analysis reveals a novel level of interaction between gut microbial genetics and human bile acid metabolism |
talk |
Wang, Xinxin |
Haplotype screening method proved powerful in hidden variant testing in simulated multi-ancestry datasets |
poster |
Ware, Doreen H |
Gramene 2021—Moving from a single reference genome to pan-genomes in plants |
poster |
Warren, Tracy |
In vivo AAV-based transient enhancer-reporter assays in mouse brain |
poster |
Weissensteiner, Matthias H |
The effect of alternative DNA structures on sequencing accuracy |
poster |
Wibisana, Johannes N |
NF-κB mediated transcriptional regulation in B-cell |
poster |
Williams, Shelby |
Comparative genomic analysis of novel metamonads shows progressive loss of mitochondrial function |
poster |
Wilson, Michael |
Conserved NF-κB regulatory logic at accessible and inaccessible chromatin during the acute inflammatory response in mammals |
poster |
Winkley, Konner |
Dissecting transcriptional and epigenomic responses to parental X-chromosome inactivation at the single-cell level |
poster |
Wooldridge, Brock |
A shared regulatory allele of Agouti contributes to parallel evolution of cryptically colored beach mice |
poster |
Wright, Carter A |
A role for chromatin remodeling in drug resistance in pancreatic cancer |
poster |
Wuennemann, Florian |
CRISPR perturbations at many coronary artery disease loci impair vascular endothelial cell functions |
poster |
Xie, Bingqing |
Template-based automated cell type assignment (TACA) for single-cell experiment cell type identification |
poster |
Xiong, Kun |
Non-adaptive factors determine which equally effective regulatory motif evolves to generate pulses |
poster |
Xiong, Xushen |
Genetic drivers of m6A methylation in human brain, lung, heart and muscle |
poster |
Xu, Qiaoji |
Accuracy of reconstructed chromosomal gene order of early plant ancestors |
poster |
Yan, Koon-Kiu |
Integrome signatures of lentiviral gene therapy for SCID-X1 patients |
poster |
Yan, Stephanie M |
Local adaption and archaic introgression at human structural variant loci |
talk |
Yang, Jiekun |
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