|
Presenting Author |
Abstract Title |
Talk/Poster |
|
Adeluwa, Temidayo |
Personalized transcription factor binding from deep learning algorithms offers a new framework to identify disease associations |
poster |
|
Afgan, Enis |
How to estimate cloud costs for genomics analyses |
poster |
|
Agrawal, Saumya |
Role of chromatin architecture of human cells in the response to infection by Sars-CoV-2 |
poster |
|
Agren, Richard |
Enrichment of Native American and African haplotypes following the Columbian interchange |
poster |
|
Aguet, Francois |
Single cell sequencing as a universal variant interpretation assay |
talk |
|
Aguilar, Robin M |
Tigerfish and FISHtank—An open-source toolkit for oligonucleotide probe design against repetitive DNA in emerging genomes |
poster |
|
Aguirre, Matthew |
Modeling the structure and function of gene regulatory networks—From graph properties to expression variation |
poster |
|
Ahluwalia, Rhea Y |
Role of alternative polyadenylation in driving noradrenergic-to-mesenchymal transition in neuroblastoma |
poster |
|
Ahmed, Omar J |
Compressed linear pangenome indexes for taxonomic classification and genotyping |
poster |
|
Akagi, Keiko |
Intratumoral heterogeneity and clonal evolution induced by HPV integration |
poster |
|
Akiyama, Yo |
The genetic regulation of proteins and post-translational modifications across tissues and cancer |
poster |
|
Akula, Nirmala |
Allele specific expression in brain of genes involved in psychiatric disorder heritability and cortical thickness |
poster |
|
Allen, Jamie |
Enabling variant annotation and displays across multiple gene annotated human assemblies in Ensembl |
poster |
|
Anderson, Nathan W |
Signals of epistatic interactions in time series genomic data |
poster |
|
Andre, Mathilde |
Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels |
poster |
|
Arbesfeld, Jeremy A |
Mapping variants from multiplex assays of variant effect (MAVEs) to human reference sequences |
poster |
|
Arndt, Peter F |
The distribution of distances between heterozygous sites in diploid species allows to efficiently infer demographic history |
poster |
|
Audano, Peter |
Long-read structural variant breakpoints are altered by small polymorphisms |
poster |
|
Auwerx, Chiara |
Copy-number variants as modulators of common disease susceptibility |
poster |
|
Avery, Randi R |
Quantitative trait gene discovery by genome-wide reciprocal hemizygote scanning |
poster |
|
Bachtrog, Doris |
Dynamic gene content evolution on Drosophila Y chromosomes |
talk |
|
Bartom, Elizabeth T |
Automated cancer cell line identification from RNA-seq data |
poster |
|
Batut, Philippe |
Genome organization and noncoding RNAs synergistically control the timing of Hox gene transcription during development |
poster |
|
Benjamin, Kynon J |
Genetic and environmental contributions to ancestry differences in gene expression in the human brain |
poster |
|
Black, Gage |
Utilizing ultra-deep WGS to investigate somatic mosaicism in healthy tissue of a BRCA variant carrier |
poster |
|
Boateng-Sarfo, George |
m6A patterns are consistent across different Drosophila datasets |
poster |
|
Bohaczuk, Stephanie C |
Targeted deep coverage epigenetic profiles with single-molecule and single-nucleotide precision |
poster |
|
Borczyk, Malgorzata |
Beyond star alleles—Genetic variant burden scoring framework for pharmacogenomics |
poster |
|
Bridge, Caroline |
Isoform Inspector—A JBrowse 2 plugin for visualization and analysis of RNA-splicing patterns |
poster |
|
Buckley, Reuben M |
eQTL analysis of canine testes suggests novel gene associations with morphological trait loci |
poster |
|
Buzby, Cassandra |
Chromosome substitution for characterizing epistasis in the budding yeast Saccharomyces cerevisiae |
poster |
|
Callejas Hernandez, Francisco |
An intron motif-aware pipeline for the assembly of spliced transcripts in species of the non-model organism Trichomonas |
poster |
|
Campoy Garcia, Maria Elena |
Towards a complete characterization of human polymorphic inversions and their functional effects |
poster |
|
Cao, Chen |
The dynamics and regulation of parental allelic expression at single-cell resolution |
poster |
|
Castro, Rodrigo |
Machine-guided design of cis-regulatory elements with cell-type specificity |
talk |
|
Cavazos, Taylor B |
Transcriptome-wide co-expression of small non-coding RNAs and genes in cancer |
poster |
|
Cechova, Monika |
Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance |
talk |
|
Chao, Katherine |
The landscape of regional missense intolerance quantified from 125,748 exomes |
poster |
|
Chung, Erin Kim |
Uncovering single-cell spatial relationships with highly multiplexed imaging |
poster |
|
Ciotlos, Dan |
Differential cell-type-specific gene expression by type 2 diabetes status in human skeletal muscle |
poster |
|
Cisternino, Francesco |
Predicting and spatially localising bulk RNA-seq from histology across 39 healthy human tissues |
poster |
|
Cochran, Kelly |
ProCapNet—Dissecting the cis-regulatory syntax of transcription initiation with deep learning |
poster |
|
Cole, Jared M |
The battle of the sexes in humans is highly polygenic |
poster |
|
Comandante-Lou, Natacha |
Decoding the intercellular signals underlying human microglia and astrocyte plasticity |
poster |
|
Cook, Laura E |
The fat-tailed dunnart genome reveals cis-regulatory drivers of developmental heterochrony between marsupials and mammals |
poster |
|
Cooperstein, Isabelle B |
A phenotypic patient matching algorithm to improve diagnoses in rare disease cohorts |
poster |
|
Coorens, Tim |
Deep whole-genome sequencing of GTEx tissues reveals developmental patterns and somatic evolution |
poster |
|
Coorens, Tim |
Direct conversion of pediatric ALL to AML after CAR-T cell and blinatumomab therapy |
poster |
|
Coorens, Tim |
The mutational landscape of normal gastric epithelium |
talk |
|
Costa, Christina E |
Genetic architecture of immune cell DNA methylation in free-ranging rhesus macaques |
poster |
|
Crawford, Robert A |
Detection of genetic and epigenetic alterations driven by loss of TET proteins at single base resolution |
poster |
|
Creed, Paidi |
Simultaneous measurement of genetics and epigenetics enables new biological insight |
poster |
|
Cuoco, Michael |
Detecting somatic LINE-1 retrotransposon insertions in single neurons |
poster |
|
Currant, Hannah |
Human genetics of endocrine-related brain anatomy using phenotypes from large-scale biomedical imaging |
talk |
|
da Conceicao, Helena Beatriz |
Retrocopies—GENE copies identified in vertebrates and invertebrates’ genomes and their orthology |
poster |
|
Dai, Yifan |
Exploring the regulatory landscape of cancer adaption in acidic extracellular matrix |
poster |
|
Das, Arun |
Diversity and representation of South Asian genomes |
poster |
|
Das, Maitreya |
Multi-modal assessment of functional impact of mutations on the genome |
poster |
|
Davtian, David |
Discovery of type 2 diabetes genes using an accessible tissue |
poster |
|
de Boer, Carl G |
Biochemical activity is the default DNA state in eukaryotes |
poster |
|
de Hoon, Michiel J |
Unidirectional expression of enhancers with cell type-dependent direction of transcription |
poster |
|
Dhiman, Alisha |
Understanding the context-dependent role of PBAF-specific subunit PBRM1 in chromatin regulation and cancer |
poster |
|
Djeddi, Sarah |
Rhinovirus infected epithelial cells drive genetic susceptibility to childhood-onset asthma |
poster |
|
Dodge, Tristram O |
The genetic architecture of adaptive pigmentation traits in swordtail (Xiphophorus) fishes |
poster |
|
Domingo, Julia |
Precise modulation of transcription factor levels reveals non-linear dosage responses within transcriptional networks |
talk |
|
Dupuis, Theo |
Leveraging polygenic enrichments for risk gene prioritisation from GWAS summary statistics |
poster |
|
Dwarshuis, Nathan John |
StratoMod—Predicting sequencing and variant calling errors with interpretable machine learning |
poster |
|
Einarsson, Hjorleifur |
Promoter sequence and architecture determine expression variability and confer robustness to genetic variants |
poster |
|
Engreitz, Jesse |
Mapping the convergence of genes for coronary artery disease onto endothelial cell programs |
talk |
|
Eraslan, Basak |
PerturbDecode, a probabilistic analysis framework to recover regulatory circuits and predict genetic interactions from large-scale Perturb-Seq screens |
talk |
|
Espejo Valle-Inclan, Jose |
Evolutionary trajectories of complex genome rearrangements in cancer |
talk |
|
Fauci, Christiana |
Discovering macroevolutionary trends for human cell types |
poster |
|
Feng, Jiawu |
Chromosome-scale and haplotype-resolved sequence assembly of Hordeum bulbosum genomes |
poster |
|
Feng, Yayan |
Widespread transposable element dysregulation in human aging brains |
poster |
|
Ferraj, Ardian |
Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements |
talk |
|
Francoeur, Eden |
Segmental duplication-mediated variation across diverse mouse genomes |
poster |
|
Frazer, Jonathan |
Proteome-scale probabilistic modeling of human genetic variation |
poster |
|
Frenkel, Max |
High-throughput multi-omic profiling of oncofusion proteins with single-cell genomics |
poster |
|
Fritz, Amelie |
The sex-specific genetic architecture of childhood asthma |
poster |
|
Gagneur, Julien |
Species-aware DNA language model |
poster |
|
Galante, Pedro A |
Investigating RNA-based gene duplication, a major force generating genetic novelties in human and other genomes |
poster |
|
Gao, Hong |
The landscape of tolerated genetic variation in humans and primates |
talk |
|
Garg, Manik |
Machine learning based patient stratification to enhance PheWAS analyses using UK Biobank data |
poster |
|
Garrison, Erik |
Recombination between heterologous human acrocentric chromosomes |
poster |
|
Garske, Kristina M |
Detecting decoherent gene co-expression patterns associated with a rural-to-urban lifestyle transition in Turkana |
poster |
|
Genner, Rylee M |
Using long-read sequencing to identify methylation differences related to Alzheimer's disease |
poster |
|
Georgakopoulos-Soares, Ilias |
The topography of nullomer-resurfacing mutations and their relevance to human disease |
poster |
|
Gilad, Yoav |
No cell left behind—Dynamic studies of gene regulation in humans |
talk |
|
Goldberg, Michael E |
Effects of parental age and polymer composition on short tandem repeat de novo mutation rates |
poster |
|
Gomez Graciani, Ruth |
The role of recombination in the origin and evolution of human inversions. |
poster |
|
Gona, Saideep |
Identification of haplotype epistasis in gene expression regulation using deep learning models |
poster |
|
Goncalves, Angela |
The function and decline of the female reproductive tract at single-cell resolution |
talk |
|
Gorjifard, Sayeh |
Terminator: Rise of the Plant Machine—How large-scale characterization of plant terminators reveals species-specific expression levels |
poster |
|
Graham, Samantha |
Integration of 170,000 samples reveals global patterns of gut microbiome diversity |
poster |
|
Gschwind, Andreas R |
Regulatory enhancer-gene interactions in the human genome |
poster |
|
Guitart, Xavi |
The rapid evolution of TBC1D3-a gene implicated in human cortical expansion. |
poster |
|
Guo, Xinyi |
A chromosome-scale CRISPR screen to identify essential elements in the human noncoding genome |
talk |
|
Haase, Kerstin |
Intercellular extrachromosomal DNA copy number heterogeneity drives cancer cell state diversity |
talk |
|
Haga, Yasuhiko |
single cell multiome analysis reveals cancer cell plasticity |
poster |
|
Harpak, Arbel |
Sex differences in genetic effects on complex traits |
talk |
|
Harripaul, Ricardo S |
Transcriptome analysis of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system |
poster |
|
Hart, Samuel F |
Centuries of genome instability and evolution in soft-shell clam transmissible cancer |
poster |
|
Hawkes, Gareth |
Whole genome burden testing in 333,100 individuals of rare non-coding genetic variation on complex phenotypes |
poster |
|
Hiatt, Laurel |
How does somatic mosaicism vary along the length of the human colon? |
poster |
|
Hitz, Benjamin C |
The impact of genomic variation on function catalog |
poster |
|
Horvath, Mian |
Transcriptional profiling of 3D lower airway tissue culture model exposed to phylogenetically diverse microbes |
poster |
|
Hou, Yuan |
Human disease genetics and real-world patient data fuel target and drug discovery in European and African American ancestries |
poster |
|
Houlahan, Kathleen |
Germline-mediated immunoediting sculpts breast cancer subtypes |
talk |
|
Hsieh, PingHsun |
Comprehensive map of introgressed structural variation in the human genome |
poster |
|
Hu, Zheng |
Cell division history encodes directional information of fate transitions |
poster |
|
Huang, Yi |
Linking process-specific polygenic risk scores of lipodystrophy to differentiation-dependent adipocyte subpopulations |
poster |
|
Huggins, Billy J |
Investigating the effects of Indy reduction on a fly model of Alzheimer's disease |
poster |
|
Hung, King L |
Oncogenes outside chromosomes |
talk |
|
Isaac, Richard S |
Single-nucleoid architecture reveals heterogeneous packaging of human mitochondrial DNA |
poster |
|
Iwabuchi, Sadahiro |
Producing artificial antibodies from FFPE lung tissue |
poster |
|
Jensen, Matthew |
Assessing tissue-specific effects of rare and structural variants towards gene regulation with the EN-TEx personal genome resource |
poster |
|
Jivanji, Swati |
Novel epistatic interactions between KIT and MITF cause breakthrough pigmentation in regions of white on the coat in cattle |
poster |
|
Karbalayghareh, Alireza |
Learning multimodal cell trajectories in differentiating systems using single cell multiomic data |
talk |
|
Karczewski, Konrad |
Diversity improves all aspects of genomic research—Lessons from 700,000 human exomes, genomes, and genotypes |
talk |
|
Kars, Meltem Ece |
Application of network-based heterogeneity clustering for investigation of genotype-phenotype correlations in BioMe BioBank |
poster |
|
Kashima, Yukie |
Single cell analysis of immune cell landscape of healthy individuals |
poster |
|
Katsevich, Eugene |
Robust differential expression testing for single-cell CRISPR screens |
poster |
|
Kedzierska, Katarzyna Z |
Chromatin modifiers as drivers in endometrial cancer |
poster |
|
Kikidis, Gianluca C |
Common genetic variation related to Schizophrenia is associated with cognitive performance in children and adolescents |
poster |
|
Kim, Kwondo |
Inference of admixture origins in indigenous African cattle |
poster |
|
Koeppel, Jonas |
Randomizing the human genome by engineering recombination between repeat elements |
poster |
|
Kornienko, Aleksandra |
Extensive natural variation and silencing of lncRNAs in Arabidopsis thaliana |
talk |
|
Kosicki, Michael |
Systematic mutagenesis reveals functional complexity of human enhancers in vivo |
poster |
|
Krasileva, Ksenia V |
Prediction of effector protein structures from fungal phytopathogens enables evolutionary analyses |
poster |
|
Kribelbauer, Judith F |
(Context-) transcription factors create cooperative regulatory environments and mediate enhancer communication |
poster |
|
Kucher, Natalie |
Cloud-scale training and education in the NHGRI Analysis, Visualization, and Informatics Lab-space (AnVIL) |
poster |
|
Kuderna, Lukas |
Identification of conserved sequence elements across 242 primate genomes with deep learning |
poster |
|
Kundu, Soumya |
Prioritizing coronary artery disease risk variants in atherosclerosis using deep learning models of chromatin accessibility in mouse |
poster |
|
Kunisaki, Jason |
Leveraging duplex DNA sequencing to comprehensively investigate germline mutations in longitudinally sampled bulk sperm |
poster |
|
Lacy, Kip D |
A programmed Mendelian violation maintains heterozygosity in a parthenogenetic ant |
poster |
|
Lake, Juniper A |
Consortium of Long Read Sequencing (CoLoRS) variant frequency database |
poster |
|
Lariviere, Delphine |
Automated Reference Genome Assembly by Galaxy and the Vertebrate Genome Project |
poster |
|
Lee, Ceejay |
Massively parallel profiling of androgen receptor protein-coding variants with SCAnnEd |
poster |
|
Lee, Sool |
Systematic investigation of allelic regulatory activity of schizophrenia-associated common variants |
poster |
|
Lehner, Ben |
Mutate everything—Globally mapping allosteric communication in proteins |
talk |
|
Leu, Costin |
The genomic landscape across 624 surgically accessible epileptogenic human brain lesions |
poster |
|
Li, Ang |
Identification of cell types and cellular dynamics genetically associated with brain disorders and cognitive traits |
poster |
|
Li, Jiangtao |
Changes in astrocytes transcriptome and proteome with aging in normal and Alzheimer's Disease mice brain |
poster |
|
Li, Siran |
Associating cancer and stromal genomes with transcriptomes by high-throughput single-cell sequencing |
poster |
|
Li, Stacy |
Employing linked read sequencing (haplotagging) to profile de novo structural variation in sperm through aging |
poster |
|
Li, Taibo |
Multi-omic Bayesian hierarchical modeling reveals trait-relevant rare genetic variation |
poster |
|
Liang, Qingnan |
A novel pathway analysis method for scRNA-seq and spatial transcriptomics data |
poster |
|
Lin, Meng |
Phenome-wide PGS portability in the Colorado Center for Personalized Medicine biobank suggests overlooked challenges in diverse populations |
poster |
|
Lin, Shiqi |
scGraph2Vec—A new method for gene embedding augmented by Graph Neural Network and single-cell omics data |
poster |
|
Lin, Wenhe |
Dynamic complexity of genetic regulatory effects in response to a high cholesterol, high fat diet in baboons |
poster |
|
Lin, Xihong |
cellSTAAR—Incorporating single-cell based cell-type specific functional data in rare variant association testing of non-coding regions of whole genome sequencing studies |
talk |
|
Liu, Andi |
An integrative study to identify the link between dysregulated intercellular signalings and genetic variants in Alzheimer's disease |
poster |
|
Liu, Boxiang |
Single-cell RNA-seq links cell type-specific regulation of splicing to autoimmune diseases |
poster |
|
Liu, George |
Mapping and functional characterization of structural variation in 1,060 pig genomes |
poster |
|
Liu, Lingjie |
DNA-sequence and epigenomic determinants of local rates of transcription elongation |
poster |
|
Liu, Wendao |
Correcting and classifying SARS-CoV-2 RNA expression in single cells |
poster |
|
Llorens Giralt, Palmira |
The chromatin regulatory landscape of mouse liver regeneration |
poster |
|
Lou, Runyang |
Unraveling the genetic basis of rapid diversification in rockfish |
poster |
|
Lowe, Craig B |
Forging new regulatory elements during the 500 million years of evolution leading to humans |
talk |
|
Loza, Martin |
Characterization of housekeeping regulatory elements in the human genome |
poster |
|
Lu, Shuangjia |
Characterization of SVs in the human pangenome reference |
poster |
|
Luebbert, Laura |
Efficient and accurate detection of viral sequences in bulk and single-cell transcriptomics data |
talk |
|
Lulla, Suchita |
Strategies for identifying high-confidence de novo mutations in somatic and germline cells through duplex sequencing of diverse tissue types |
poster |
|
Lund, Anina |
Profiling the neurobiology underlying brain structure in living human subjects |
talk |
|
Luo, Yanting |
Investigating the role of insertions in the human genome |
talk |
|
Makova, Kateryna |
Telomere-to-telomere ape sex chromosome assemblies unravel rapid evolution on the Y and conservative evolution on the X |
talk |
|
Mangan, Riley J |
Nucleotide determinants of derived enhancer function in hominin evolution |
poster |
|
Marderstein, Andrew R |
Single-cell multi-omics in fetal Down's syndrome reveals the impact of aneuploidy in cellular differentiation and gene regulation |
poster |
|
Margolis, Michael |
Cross-ancestry, cell-type-informed atlas of gene, isoform, and splicing regulation in the developing human brain |
poster |
|
Marti-Gomez, Carlos |
Understanding complex genotype-phenotype maps |
talk |
|
Massilani, Diyendo |
The high-coverage genome of a male Neandertal |
poster |
|
Mathieson, Iain |
Using ancient DNA to detect and understand recent natural selection in humans |
talk |
|
Matthews, Jamie E |
LT-Free—A novel method for leveraging family history in genetic association studies of arbitrarily complex diseases. |
poster |
|
Mawlood, Shakhawan |
Analysis of ancient bone DNA samples from excavations at St Peter’s burial ground, Blackburn |
poster |
|
McCoy, Brianah |
Social environmental effects on gene regulation and aging in a large cohort of companion dogs |
poster |
|
Mele, Marta |
Transcriptional and epigenetic impact of cigarette smoking across human tissues |
talk |
|
Meyn, Stephen |
Beyond the exome—A genomics-based undiagnosed genetic disease research program |
poster |
|
Mishmar, Dan |
Hypoxia leads to unique mtDNA transcriptional patterns and affects mito-nuclear regulatory coordination |
poster |
|
Mitchell, Jennifer A |
Epigenetic misactivation of a distal developmental enhancer cluster drives SOX2 overexpression in multiple types of cancer |
poster |
|
Mitra, Sneha |
Regression modeling of multiome data identifies functional enhancers and enables chromatin potential analysis |
talk |
|
Mo, Ziyi |
Domain-adaptive neural networks improve supervised machine learning based on simulated population genetic data |
poster |
|
Morgan, Mike |
Milo2.0 unlocks population genetic analyses of cell state abundance using a counts-based mixed model |
talk |
|
Mortazavi, Ali |
Genomic regulatory structure of the ENCODE4 mouse postnatal developmental time course at single-cell resolution reveals homologous regulatory topics within and across tissues |
talk |
|
Mosher, Stephen L |
A unified computing environment for genomics data storage, management, and analysis—NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-Space (AnVIL) |
poster |
|
Muyas Remolar, Francesc |
Accurate de novo detection of somatic mutations in single-cell genomics and transcriptomics data |
poster |
|
Nakamoto, Anne |
Intraspecific variation of transposable element dynamics and protein families in a fungal phytopathogen reveal differences in the evolutionary history of its various pathotypes |
poster |
|
Nassar, Lou |
Using snakes rearrangement display to visualize pairwise alignments on the UCSC Genome Browser |
poster |
|
Natri, Heini |
Cell type-specific and disease-associated eQTL in the human lung |
talk |
|
Ni, Bohan |
Modeling the impact of rare structural variants on gene expression in rare disease cases |
poster |
|
Niepoth, Natalie |
Genetic causes and phenotypic consequences of newly evolved adrenal cell type |
talk |
|
Nyasimi, Festus |
BaboonXcan, a framework to identify genes associated with phenotypes in Baboons |
poster |
|
Oliva, Meritxell |
Identification of host genes associated with COVID-19 risk and severity by ancestry-aware trans-layer multi-omic analysis |
poster |
|
Oliveros Diez, Winona O |
Systematic characterization of regulatory variants of blood pressure genes |
poster |
|
Ollila, Hanna M |
The alpha-2A adrenergic receptor (ADRA2A) modulates susceptibility to dysautonomia and Raynaud’s disease |
poster |
|
Omans, Nathaniel D |
Retrospective lineage tracing and phenotypic profiling in human tissues by droplet single cell microsatellite sequencing |
poster |
|
Oppenheim, Sara J |
From "Alaskan Thunderf*ck" to "Maui Wowie"—The genetic architecture of cannabinoid concentration in 500 strains of pot |
poster |
|
Paabo, Svante |
Metabolic and behavioral effects of a modern human-specific amino acid substitution in adenylosuccinate lyase |
poster |
|
Palenikova, Petra |
Utilizing temporal proteomics of iPSC-derived neuronal cell states for study of disease-specific pathways in mental disorders |
poster |
|
Pallaseni, Ananth |
The impact of repair context on mutations generated by Cas9 |
poster |
|
Panda, Arijit |
Clonally selected lines after CRISPR/Cas editing are not isogenic |
poster |
|
Pang, Baoxu |
Systematic identification of silencers in the human genome |
poster |
|
Park, Jiyeon |
Alternative splicing of RPS24 gene is a prognostic biomarker in kidney renal clear cell carcinoma |
poster |
|
Parrish, Phoebe C |
Expanding cancer therapy options through genome-scale identification of synthetic lethal paralog pairs |
poster |
|
Patel, Aman |
Reconstructing the cis-regulatory landscape of archaic hominids using deep learning |
poster |
|
Perera, Deshan |
CATE—An accelerated and scalable solution for large-scale genomic data processing through GPU and CPU-based parallelization |
poster |
|
Perez-Lluch, Silvia |
Slower B cell transdifferentiation in human than in mouse is the by-product of the human specific Alu-repeat expansion |
poster |
|
Perez-Lluch, Silvia |
The epigenetic logic of gene activation |
poster |
|
Pinello, Luca |
CRISPR-CLEAR—In-situ investigation of genotype-to-phenotype relationship with nucleotide level resolution CRISPR saturation mutagenesis screens |
poster |
|
Pott, Sebastian |
An accessible chromatin atlas of the human intestine identifies disease specific regulatory features and delineates the impact of non-coding variants in Crohn’s disease |
poster |
|
Quinlan, Aaron R |
It takes two (strands) to make a thing go right. Right? |
poster |
|
Raj, Anil |
Plasma proteomic determinants of common causes of mortality |
poster |
|
Rajesh, Chandana |
Uncovering higher-order motif interactions with biologically interpretable neural networks |
poster |
|
Ramirez, Jose Miguel |
The landscape of transcriptomic and epigenetic variation across human traits |
poster |
|
Ramkhalawan, Darius |
Identification of functional variants associated with adolescent idiopathic scoliosis |
poster |
|
Rand, David M. |
A test of Mother’s Curse with deep mtDNA divergence and outbred nuclear backgrounds in Drosophila |
poster |
|
Ranjbaran, Ali |
Single-cell profiling of transcriptional changes associated with neighborhood stress in immune cells of adolescents with asthma |
poster |
|
Real, Aline |
Direct long-read RNA sequencing uncovers functional genetic variation affecting transcripts expression. |
poster |
|
Rebboah, Elisabeth |
The IGVF “8-cubed” single nucleus RNA-seq dataset of transcriptional variation across mouse genotypes |
posters |
|
Reese, Fairlie K |
The ENCODE4 long-read RNA-seq dataset reveals distinct classes of transcript structure diversity |
poster |
|
Ripoll Cladellas, Aida R |
A robust statistical framework for gene-wise single-cell differential expression meta-analysis in the context of population-based single-cell studies |
poster |
|
Roberts, Elizabeth T |
Single-cell RNA-seq in cell villages enables discovery of state-dependent eQTLs |
talk |
|
Rocha, Joana |
A Pan-pangenome captures the full spectrum of genetic variation and ancient trans-species structural polymorphism in humans, chimpanzees and bonobos |
talk |
|
Rodriguez-Flores, Juan L |
Systematic computational search for ORF gene function |
poster |
|
Rosconi, Federico |
Bacterial pangenomes shape essentiality and gene-phenotype associations and thereby drive genome-evolution |
poster |
|
Rosenski, Jonathan |
A human atlas of imprinting and allele-specific methylation |
poster |
|
Roskes, Jeffrey S |
Spatial transcriptomics in the AstroPath platform |
poster |
|
Rossi, Fabiana |
Enhancing gene expression prediction in major psychiatric disorders via co-expression models |
poster |
|
Rothschild, Daphna |
A comprehensive rRNA variation atlas in health and disease |
poster |
|
Rotival, Maxime |
Genetic and evolutionary basis of population differences in immune response to respiratory viruses |
talk |
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Rumker, Laurie |
Genetic variants associated with immune cell population abundances in single-cell data |
poster |
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Rutherford, Erica M |
The CZ CELLxGENE Discover suite is an analytical platform and the largest repository of standardized single-cell data |
poster |
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Sanchez Rosado, Mitchell R |
Age and social status are associated with Th1 and Th2 immune gene regulatory responses in rhesus macaques |
poster |
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Sasani, Thomas A |
Discovering epistasis between germline mutator alleles in mice |
talk |
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Sauer, Carolin |
Application of Nanopore sequencing for liquid biopsy analysis in children with cancer |
poster |
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Schatz, Michael |
Genomics at scale with the NHGRI AnVIL |
talk |
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Schertzer, Megan D |
Isoform-specific functions of RNA-binding proteins |
poster |
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Schiffman, Joshua S |
Defining ancestry, heritability and plasticity of cellular phenotypes in somatic evolution |
poster |
|
Schreiber, Jacob M |
DragoNNFruit—Learning cis- and trans-regulation of chromatin accessibility at single base and single cell resolution |
talk |
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Schwarz, Erich |
CGC1, a new gap-free and telomere-to-telomere reference genome for Caenorhabditis elegans |
poster |
|
Sederman, Casey |
Improving precision cancer treatment selection by integrating deep omic tumor characterization and patient-specific drug screening |
poster |
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Seitz, Evan |
A surrogate modeling framework for interpreting deep neural networks in functional genomics |
poster |
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Serohijos, Adrian |
Dissecting the functional drivers of complex phenotypes by in vivo protein-interaction QTL mapping (pi-QTL) |
poster |
|
Serrano, Isabel M |
Mitochondrial haplotype and mito-nuclear matching drive somatic mutation and selection through aging |
poster |
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Serres Armero, Aitor |
Meta-analysis of epigenetic age in dogs modulated by breed lifespan |
poster |
|
Shaw, Natalie |
DUX4 double whammy—The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose |
poster |
|
Shekhar, Sudhanshu |
Transcriptome-wide and proteome-wide association study of Tourette’s syndrome |
poster |
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Shemirani, Ruhollah |
A novel method to account for fine-scale population structure in large-scale genomic analysis |
talk |
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Shinder, Ida |
EASTR—Improving RNA-seq alignment for accurate transcriptome assembly and reference annotation curation |
poster |
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Sienkiewicz, Karolina M |
Changes in circulating cell-free DNA as a biomarker of immune response to short-duration spaceflight |
poster |
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Singh, Kritika |
Inflammation as a potential mechanism linking depression and coronary artery disease |
poster |
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Siraj, Layla |
Functional dissection of complex and molecular trait variants at single nucleotide resolution |
talk |
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Slaven, Neil |
Gene deserts harbor noncoding functions critically required for normal development |
poster |
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Sokolowski, Eishani K |
Surveying specific and shared responses of human islets to T2D-associated stressors |
poster |
|
Song, Dongyuan |
A unified framework of realistic in silico data generation and statistical model inference for single-cell and spatial omics |
poster |
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Song, Li |
T1K—Efficient and accurate KIR and HLA genotyping with next-generation sequencing data |
poster |
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Song, Wei |
Enhancer repression in gene expression fine-tuning |
poster |
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Spealman, Pieter |
Transcriptional attenuation of CNV amplification and consequences for gene regulatory networks |
poster |
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Sridharan, Samvardhini |
The evolutionary history of 17q21.31 structural haplotypes in ancient and modern humans |
poster |
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Starostik, Margaret R |
A machine learning approach to identify functionally relevant endogenous mRNA targets of piRNAs in C. elegans |
poster |
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Stigliani, Arnaud |
A method to sequence true full-length capped RNA |
poster |
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Stojanoiv, Petar |
The small RNA transcriptome and its genetic regulation across human tissues |
poster |
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Su, Chang |
Cell-type-specific co-expression inference from single cell RNA-sequencing data |
talk |
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Suderman, Keith |
ABM—Benchmarking bioinformatics tools |
poster |
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Sun, Na |
Single-cell eQTLs mapping in brain cell types reveal context specific genetic regulation and implications in AD genetics |
poster |
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Sundaresh, Adithi |
Single cell atlas of cortical neuron development in vitro |
talk |
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Sutherland, Chandler |
High intraspecies allelic diversity in plant immune receptors is associated with distinct genomic and epigenomic features |
poster |
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Sutradhar, Anima |
Transcriptome-wide meta-analysis of codon usage in Escherichia coli |
poster |
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Tan, Kar-Tong |
Neotelomeres and telomere-spanning chromosomal arm fusions in cancer genomes revealed by long-read sequencing |
poster |
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Toneyan, Shushan |
Modeling gene expression through proximal and distal sequence elements using deep learning |
poster |
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Torres-Gonzalez, Edmundo J |
Age-related accumulation of de novo indels in mitochondrial DNA of mice and macaques |
poster |
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Tubbs, Colby A |
Systematic interpretation of genetic variants that disrupt CTCF binding sites |
poster |
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Tuggle, Christopher |
Strong conservation of promoter-like elements, but not active enhancers, between circulating porcine and human immune cells |
poster |
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Valencia, Cristian |
Modeling single-cell activation states enhances power to identify ex vivo stimulation response eQTLs |
poster |
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Vannan, Annika |
Spatial transcriptomics analysis reveals pathology-specific cell and molecular changes in pulmonary fibrosis |
poster |
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Velten, Lars |
Targeted single cell methylome profiling reveals epigenetic encoding of hematopoietic stem cell fate |
talk |
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Venkatesh, Samvida S |
The distinct genetic determinants of reproductive hormones and infertility |
poster |
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Ventresca, Christa |
Discovering stimulatory state specific T2D GWAS mechanisms with single cell multi-omics on iPSC-derived FAP villages |
talk |
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Verma, Anurag |
300 billion associations—Genetic architecture of 2,071 phenotypes in 658,582 individuals of diverse ancestry in the VA Million Veteran Program |
poster |
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Vilgalys, Tauras P |
Genetic variation shaping the transcriptomic immune response to Yersinia pestis |
poster |
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Villicana Munoz, Sergio |
Genetic impacts on DNA methylation help dissect the interplay between genetics, epigenetics and disease |
poster |
|
Vinuela, Ana |
Dissecting the interplay between ageing, sex and body mass index on a molecular level |
poster |
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Vochteloo, Martijn |
scMetaBrain—Federated single-cell consortium for cell-type specific eQTL analysis of neurological disease variants |
poster |
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Wang, Joyce Y |
The poor portability of polygenic scores is only partially attributable to genetic ancestry |
poster |
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Wang, Shou-Wen |
A mouse model with high clonal barcode diversity for joint lineage, transcriptomic, and epigenomic profiling in single cells |
talk |
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Wang, Shou-Wen |
CoSpar identifies early cell fate biases from single cell transcriptomic and lineage information |
poster |
|
Wang, Xinan |
Impact of individual level uncertainty of lung cancer polygenic risk score on risk stratification and prediction |
poster |
|
Wang, Xinan |
The role of race and genetic ancestry in KRAS mutation and subtypes in non-small cell lung cancer |
poster |
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Ward, Alistair N |
Calypso—Longitudinal genomic diagnostic care with innovative web tools |
poster |
|
Ward, Michelle C |
Top2B-inhibiting breast cancer drugs including anthracyclines affect cardiomyocyte health through a shared gene expression response signature |
poster |
|
Wasik, Kaja A |
Transforming genomics research through community engagement and return of results—A case study from French Polynesia |
poster |
|
Watowich, Marina M |
Rural and urban lifestyles are associated with differential immune gene regulation in Turkana |
poster |
|
Wattenberg, Eve S |
A computational toolkit to integrate multi-omics time-series data across species in brain development |
poster |
|
Wei, Xiaoran |
Methylome, transcriptome and alternative splicing profiling of neurons, astrocytes, and microglia |
poster |
|
Weinstock, Josh |
Bayesian causal inference of gene regulatory networks from CRISPR perturbations in CD4+ T cells |
poster |
|
Weller, Juliane |
Prediction of prime editing insertion efficiencies using sequence features and DNA repair determinants |
poster |
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Whittaker, Allyson |
Uncovering gene fusions with 3D genomics—From clinical validation to actionable insights for undiagnosable solid tumors |
poster |
|
Wong, Wilfred |
Spatial regression models for the analysis of chromatin conformation data |
poster |
|
Xu, Boyan |
Structure-aware annotation of solenoid protein domains |
poster |
|
Xu, Zhichao |
Structural variants drive context dependent oncogene activation in cancer |
poster |
|
Xue, Xinhe |
Mapping the cis- and trans-regulatory landscape of the immune checkpoint PD-L1 with paired genetic screens |
poster |
|
Yala, Feriel |
Predicting the structure and function of alternative proteins |
poster |
|
Yang, Rui |
Epiphany—Predicting the Hi-C contact map from 1D epigenomic data |
poster |
|
Yilmaz, Feyza |
High level of structural complexity of canine olfactory receptor gene families revealed by genome assemblies of six dog breeds |
poster |
|
Yu, Zhi |
Proteomic analyses reveal mechanistic links between clonal hematopoiesis of indeterminate potential and coronary artery disease |
poster |
|
Yunusov, Dinar |
Accurate quantification of multi-mapping reads in single-cell RNA-seq with STARsolo |
poster |
|
Zajac, Cynthia K |
Understanding caudal developmental abnormalities using single-nucleus multi-omics data from wild type and Danforth's short tail mouse E9.5 tailbuds |
poster |
|
Zeberg, Hugo |
Denisovan and Neandertal gene variants influence brain morphology in present-day people |
poster |
|
Zeng, Lu |
Genetic perturbation of PU.1 binding in microglia and disease risk association |
poster |
|
Zhao, Yixin |
Model-based characterization of the equilibrium dynamics of transcription initiation and promoter-proximal pausing in human cells |
poster |
|
Zhao, Yu |
Multiomic analysis reveals cellular and epigenetic plasticity in intestinal pouches of ulcerative colitis patients |
poster |
|
Zook, Justin M |
Genome in a Bottle benchmarks in the era of complete human genomes |
poster |
|
Zou, James |
Discovering disease-relevant spatial cellular motifs with graph deep learning on spatial omics |
talk |