|
Presenting Author |
Abstract Title |
Talk/Poster |
|
Abel, Haley |
Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes |
poster |
|
Abyzov, Alexej |
Chromatin organization modulates the origin of heritable structural variations in human genome |
poster |
|
Adamson, Aaron |
Genomic analysis of germline and somatic variation in high-grade serous ovarian cancer |
poster |
|
Agarwal, Vikram |
Predicting mRNA abundance directly from genomic sequence using deep convolutional neural networks |
poster |
|
Agrawal, Saumya |
Functional annotation of long non-coding RNAs based on their spatial localization |
talk |
|
Albert, Frank W |
Coding and noncoding DNA variants underlie trans-acting hotspots of gene expression variation |
poster |
|
Alver, Maris |
Identifying very rare genetic variants in DNA microarray data using a population-specific reference panel for imputation |
poster |
|
Arauna, Lara Rubio |
Genome-wide analyses of Ni-Vanuatu populations reveal diverse ancestries and temporal differences in admixture patterns |
poster |
|
Arciero, Elena |
Fine-scale population structure and history in British-Pakistanis and implications for disease risk |
poster |
|
Argelaguet, Ricard |
Single cell multi-omics profiling reveals a hierarchical epigenetic landscape during mammalian germ layer specification |
poster |
|
Asgari, Samira |
Higher Native American ancestry proportion is associated with increased TB progression risk in the Peruvian population |
poster |
|
Bae, Taejeong |
Best practices for discovering mosaic variants in whole-genome sequencing data |
poster |
|
Baez-Ortega, Adrian |
Somatic evolution and global expansion of an ancient transmissible cancer lineage |
poster |
|
Bailey, Matthew H |
Strategies for differential omics of responders and non-responders in patient-derived tumor organoids |
poster |
|
Ballouz, Sara |
Is it time to change the reference genome? |
poster |
|
Banovich, Nicholas E |
scRNA-seq identifies changes in cell types, cell states, and expression levels in patients with idiopathic pulmonary fibrosis. |
poster |
|
Barthel, Floris P |
Longitudinal molecular trajectories of diffuse glioma in adults |
poster |
|
Bartom, Elizabeth Thomas T |
Expression of exogenous mRNA in human cancer cell lines leads to RISC-mediated cell death |
poster |
|
Batra, Sanjit S |
Inferring African population differences from gene expression |
poster |
|
Baur, Brittany A |
Leveraging public epigenomic datasets to examine the role of regulatory variation in the three-dimensional organization of the genome |
poster |
|
Beer, Michael |
Critical assessment of computational methods to predict the impact of enhancer variation |
poster |
|
Berest, Ivan |
Quantification of differential transcription factor activity and multiomics-based classification into activators and repressors—diffTF |
poster |
|
Bhetariya, Preetida J |
Bioinformatics pipeline for detection and prioritization of very low-frequency somatic cancer mutations in tumor-derived circulating cell-free DNA sequencing data |
poster |
|
Blekhman, Ran |
Quantifying the heritability of the gut microbiota using 13,780 longitudinal microbiome profiles |
talk |
|
Blibaum, Daniel |
Mercury—High quality visualization and reproducible exploratory analysis of scRNA-seq data |
poster |
|
Blumberg, Amit |
Characterizing RNA stability genome wide through combined analysis of PRO-seq and RNA-seq data |
poster |
|
Blundell, Jamie R |
The fitness landscape of clonal haematopoiesis |
poster |
|
Bock, Christoph |
CRISPR single-cell sequencing—Toward functional biology in high throughput |
talk |
|
Bono, Hidemasa |
An integrated index of public gene expression databases and its application for meta-analysis of hypoxic transcriptomes |
poster |
|
Boukas, Leandros |
Co-expression patterns define variation-intolerant chromatin regulators associated with neuropsychiatric phenotypes. |
poster |
|
Breuss, Martin W |
Assessment of human male gonadal mosaicism reveals mutational origins and stratifies risk of transmission |
poster |
|
Brion, Christian |
Mapping trans-acting genetic variation in gene expression by simultaneous quantification of mRNA and protein levels in single cells |
poster |
|
Brotman, Sarah M |
Comparison of gene- and exon-based cis-eQTLs in human subcutaneous adipose tissue |
poster |
|
Caceres, Mario |
Determining the impact of missed inversions in the human genome by droplet digital PCR (ddPCR) |
poster |
|
Cai, Na |
Common mitochondrial DNA variants implicated in variations in mitochondrial oxidative activity |
poster |
|
Calvert, Fiona |
Generation of the first regulatory map of human primary microglia from 141 neurosurgical patients. |
talk |
|
Cao, Junyue |
The single cell transcriptional landscape of mammalian organogenesis |
poster |
|
Carlson, Jedidiah |
Tracking the interdisciplinarity and misappropriation of genomics research through social media |
poster |
|
Castro, Christopher |
Identifying de novo noncoding mutations associated with autism spectrum disorders |
poster |
|
Cavassim, Maria Izabel A |
The genomic architecture of introgression among sibling species of bacteria |
poster |
|
Cebola, Ines |
Human pancreatic islet 3D chromatin architecture provides insights into the genetics of type 2 diabetes |
talk |
|
Chan, Frank |
A map of mitotic recombinations in Bloom Syndrome family trios revealed by direct haplotype tagging |
poster |
|
Chatterjee, Sumantra |
Penetrance of Hirschsprung disease depends on cell fate decisions in the enteric nervous system (ENS) |
poster |
|
Chatzipli, Aikaterini |
TREX1 and APOBEC3B induce chromothripsis and kataegis |
talk |
|
Chen, Junjie |
EpiML—A web server for epistasis analysis using machine learning methods |
poster |
|
Chen, Lei |
Identification of structural variation associated with cardiometabolic traits in the Finnish population |
poster |
|
Chen, Lianmin |
Longitudinal analysis of the gut microbiome reveals dynamic changes in relation to medications and phenotypes |
talk |
|
Chen, Minhui |
Re-examining the evidence of polygenic adaptation at height-associated loci in mainland Europe and Sardinia |
poster |
|
Cheng, Xiaoheng |
Robust and window-insensitive mixture model approaches for localizing balancing selection |
poster |
|
Chiang, Charleston |
The impact of global and local Polynesian genetic ancestry on complex traits in Native Hawaiians |
poster |
|
Choin, Jeremy |
The adaptive history of African rainforest hunter-gatherers using whole-exome sequencing |
poster |
|
Choudhary, Saket |
A reference database and detection method for actively translating ORFs from Ribo-seq data |
poster |
|
Chougule, Kapeel M |
Characterizing genetic and transcript variation using long single molecule sequencing in maize |
poster |
|
Christ, Ryan R |
Propagating massive local relatedness matrices locus-by-locus—Probabilistic haplotype screening in large datasets via doubly decoupled HMMs |
poster |
|
Chundru, Vignesh K |
Outlying levels of DNA methylation are associated with rare genetic variation and altered gene-expression |
poster |
|
Clark, Ryan L |
Predicting the structure and butyrate production of synthetic human gut microbiome communities |
poster |
|
Cohen, Tal |
mtDNA eQTLs and the m1A 16S rRNA modification explain mtDNA tissue-specific gene expression pattern in humans |
poster |
|
Collado Torres, Leonardo |
recount-brain—A curated repository of human brain RNA-seq datasets metadata |
poster |
|
Collins, Ryan L |
Mutational and selective principles of structural variation across human populations |
poster |
|
Corominas, Montserrat |
The regulatory landscape underlying epithelial regeneration in Drosophila |
poster |
|
Couto Alves, Alexssander |
GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child and adult BMI |
poster |
|
Cui, Hongzhu |
In-silico edgetic profiling of population-specific variation in human genome |
poster |
|
Cuomo, Anna |
Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression |
poster |
|
Currant, Hannah |
Human genetics of complex retinal anatomy revealed by large scale imaging |
talk |
|
Dabrowski, Michal J |
Genome-wide mapping of DNA methylation variants affecting gene expression levels in gliomas with respect to their grade and IDH gene mutation status |
poster |
|
Dalmia, Anupriya |
Functional annotation of lncRNAs in the human brain |
poster |
|
D'Antonio, Matteo |
Identifying and functionally characterizing the proximate effects of fetal-specific cardiac regulatory variants on molecular phenotypes |
poster |
|
David, Julianne K |
How specific is tumor-specific splicing? |
poster |
|
del Rosario, Ricardo C.H. |
Analyzing genetic diversity in marmoset colonies |
poster |
|
Demircioglu, Deniz |
A pan-cancer transcriptome analysis reveals pervasive regulation through tumor-associated alternative promoters |
poster |
|
Dermitzakis, Emmanouil T |
The interplay between 3D genome organization and genetic variation |
poster |
|
Dobin, Alexander |
STARsolo—Single-cell RNA-seq analysis beyond gene expression |
poster |
|
D'Oliveira Albanus, Ricardo |
The chromatin accessibility information landscape of human transcription factor-DNA interactions |
poster |
|
Domingo, Julia |
Pairwise and higher-order genetic interactions during the evolution of a tRNA |
talk |
|
Donnelly, Peter J |
A novel method for joint analysis and colocalization applied to 10,000 GWAS datasets identifies molecular mechanisms underpinning GWAS hits, reveals surprising shared biology between diseases, and increases the power of polygenic risk scores |
talk |
|
Dukler, Noah |
Characterizing the genomic determinants of cis-regulatory element evolution with phylogenetic models |
poster |
|
Durbin, Harly |
Using citizen science to identify cattle for a changing climate |
poster |
|
Ekawade, Aditya |
Generating a list of prioritized genes associated with a patient’s disease and phenotype using the genepanel.iobio web tool |
poster |
|
Eng, Christine |
A global survey of transcription in 18,000 samples identifies putative functions of highly repetitive, cancer-associated RNAs originating from endogenous retroviral elements |
poster |
|
Englund, Melissa |
Developing a comprehensive view of the PRDM1 negative and positive regulatory landscape |
poster |
|
Eskin, Eleazar |
Leveraging alleleic hetegeneity in association studies |
talk |
|
Fairley, Susan |
Extending the resources created by the 1000 Genomes Project in the International Genome Sample Resource (IGSR) |
poster |
|
Farh, Kai-How |
An atlas of human benign variation inferred from primate population sequencing |
poster |
|
Farrell, Andrew R |
The unbiased length spectrum of human de novo mutations in 4,330 children |
poster |
|
Findley, Anthony S |
Genetic and environmental determinants of cardiomyocyte gene expression |
poster |
|
Flores-Bello, Andre |
Deciphering the human genetic panorama of Basques |
poster |
|
Flynn, Elise D |
Tissue variability of regulatory variant effects and the role of transcription factors |
talk |
|
Fong, Sarah L |
Human enhancers with complex evolutionary architectures are more active than enhancers with simple architectures |
poster |
|
Frankish, Adam |
Refining reference protein-coding gene annotation for human and mouse in GENCODE |
poster |
|
Friedman, Robin C |
Widespread haploid-biased gene expression in mammalian spermatogenesis associated with frequent selective sweeps and evolutionary conflict |
talk |
|
Gabdank, Idan |
Transcriptomics data goldmine on the ENCODE portal |
poster |
|
Galante, Pedro A F |
SANDY—A straightforward and complete next-generation sequencing read simulator |
poster |
|
Gamache, Isabel |
Population differentiation of the ADCY9 pharmacogene reveals a potential epistatic interaction with CETP |
poster |
|
Gardner, Eugene J |
Effect of large copy number variants on general cognition in 18,329 healthy individuals |
poster |
|
Garg, Manik |
Molecular profiling of primary cutaneous melanomas reveals pathways predisposing to brain metastases |
poster |
|
Geirsdottir, Laufey |
Cross-species analysis across 450 million years of evolution reveals conservation and divergence of the microglia program |
poster |
|
Geller, Evan |
Big brains—High-throughput enhancer deletions and the genetics of becoming human |
talk |
|
Genovese, Giulio |
On the importance of long-range phasing for non-invasive prenatal testing at low fetal fractions |
poster |
|
Georges, Stephanie |
Oncogene.iobio—A web app for real-time, integrative examination and functional prioritization of tumor mutations |
poster |
|
Gerstein, Mark |
Comprehensive functional genomic resource and integrative model for the human brain |
poster |
|
Ghosh, Sulagna |
Biological insights from the integrated genomic analysis of 143 human embryonic stem cell lines |
poster |
|
Ghoussaini, Maya |
Open targets genetics—Integrating genetics and functional genomics to identify and prioritize drug targets |
poster |
|
Gillis, Jesse |
Signatures of transcriptomic individuality revealed by the nine-banded armadillo |
poster |
|
Glodzik, Dominik |
Mutational mechanisms of amplifications revealed by analysis of rearrangements in breast cancer genomes |
poster |
|
Godfrey, Alexander K |
Cis-regulation provides a link between the human Y chromosome and sex differences in non-reproductive tissues |
poster |
|
Gularte Merida, Rodrigo |
Single-cell DNA sequencing reveals extensive clonal heterogeneity and biased T-cell infiltration in dedifferentiated liposarcoma |
poster |
|
Guo, Karl |
New IDEAS for GWAS—Epigenetic “fingerprints” to systematically identify disease causal cell types for thousands of traits in the GWAS Catalog and UK Biobank |
poster |
|
Handsaker, Juliet E |
Identifying disorder-specific methylation signatures in patients with severe developmental disorders |
talk |
|
Handsaker, Robert |
Population-scale analysis of copy number variation from whole genome sequencing |
poster |
|
Hansen, Adam W |
HARLEE (Hadoop ARchitecture LakE of Exomes) facilitates the discovery of candidate Mendelian disease genes through a genocentric approach |
poster |
|
Harkins, Tim |
A cryptocurrency funded, blockchain notarized and reviewed, publicly available and usable reference genome of Cannabis sativa L |
poster |
|
Harpak, Arbel |
Poor portability of polygenic scores even within an ancestry group |
talk |
|
He, Meng Xiao |
Associating germline variants with somatic chromosome breaks in cancer |
poster |
|
He, Xin |
Understanding regulation of mRNA N6-methyladenosine (m6A) and its contributions to human diseases by QTL mapping |
poster |
|
He, Yuan |
Mechanisms of tissue specific genetic regulation revealed by latent factors across eQTLs |
poster |
|
Herrero, Javier |
Application of variation graph for the detection of additional somatic mutations |
poster |
|
Heskett, Michael B |
vlinc273 is required for normal DNA replication timing of chromosome 6 in the GM12878 cell line |
poster |
|
Heutink, Peter |
The foundational data initiative for Parkinson disease (FOUNDIN-PD) |
poster |
|
Hirose, Naoki |
Functional annotation of non-coding genomic regions in non-human primates |
poster |
|
Houlahan, Katie E |
Genome-wide germline correlates of the epigenetic landscape of prostate cancer |
poster |
|
Huang, Xiaomeng |
Resolving subclone-specific molecular phenotype in a metastatic ovarian cancer patient by integrated analysis of bulk DNA and single cell RNA sequencing data |
poster |
|
Hussin, Julie |
Multi-omics data analysis in cardiovascular research |
poster |
|
Hutter, Carolyn |
Genomics2020—An overview of the ongoing NHGRI strategic planning process |
poster |
|
Illarionova, Anastasia |
A human protein-protein interaction network for PD GWAS risk loci to catalyze genomic interpretation |
poster |
|
Isaacs, Farren |
Precise editing at DNA replication forks enables multiplex genome engineering in eukaryotes |
talk |
|
Iwabuchi, Sadahiro |
Comparison of the gene expression profile in the different cultured condition by single cell transcriptome analysis |
poster |
|
Iyer, Shruti V |
Understanding genetic variation using targeted and single-cell long-read sequencing |
poster |
|
Jaffe, Andrew E |
Cell type-specific genetic regulation of expression in the granule cell layer of the human dentate gyrus |
talk |
|
Jerber, Julie L |
Mapping the functions of human disease risk alleles during neuronal development using multiplexed differentiation of human induced pluripotent stem cells |
talk |
|
Jia, Peilin |
CNet—A multi-omics approach to detecting clinically associated, combinatory genomic signatures |
poster |
|
Johnson, Ruth D |
Dissecting the genetic architecture of complex traits through local polygenicity using summary statistics from genome-wide association studies |
talk |
|
Jolanki, Otto |
The ENCODE transcriptome pipelines—Reproducible, portable tools for RNA-seq analysis |
poster |
|
Keane, Thomas |
Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci |
poster |
|
Keith, Benjamin P |
Identification of distinct molecular subtypes of Crohn’s disease through gene expression and chromatin accessibility |
poster |
|
Kellis, Manolis |
Single-cell dissection of Alzheimer’s pathology—Genetics, epigenomics, transcription, sex, age, and disease phenotypes |
poster |
|
Kerin, Matthew R |
Gene-environment interactions in the UK Biobank |
poster |
|
Kim, Daniel S |
Decoding regulatory DNA sequence and regulatory networks in keratinocyte differentiation |
talk |
|
Kim-Hellmuth, Sarah |
Characterizing cell type specificity of eQTLs from estimated cell type abundances across GTEx tissues |
poster |
|
Koren, Sergey |
Telomere-to-telomere assembly of a complete human X chromosome |
poster |
|
Kreimer, Anat |
Massively parallel characterization of regulatory dynamics during neural induction |
talk |
|
Kuchina, Anna |
µSPLiT—High-throughput single-cell RNA sequencing platform for microbial communities |
poster |
|
Kuderna, Lukas |
The Primate Genome Sequencing Initiative—Assessing primate genomic diversity at a global scale |
poster |
|
Kumar, Vivek |
Predictive modeling in biological systems using multi-omics datasets in open-science, community platform of KBase |
poster |
|
Lage, Kasper |
From genetic risk variants to convergent protein networks—An integrative approach to elucidate the causal molecular mechanisms of schizophrenia |
talk |
|
Laplana, Marina |
Efficient and high-throughput genotyping of elusive human polymorphic inversions mediated by inverted repeats |
poster |
|
Larson, Matthew H |
Detection of tissue-specific RNA in the plasma of cancer patients—A Circulating Cell-free Genome Atlas (CCGA) Substudy |
poster |
|
Layer, Ryan M |
Mining thousands of genomes for reliable structural variant population allele frequency estimates |
poster |
|
Lee, Joyce |
Contiguous assembly of Bionano DLS chemistry reveals structural variants at challenging regions |
poster |
|
Lerga, Jon |
The influence of human inversions on gene expression, epigenetic changes and phenotypic variation |
poster |
|
Li, Jun |
Evolutionary divergence of mammalian spermatogenesis—Single-cell comparative analyses across mouse, monkey, and human testes |
poster |
|
Lin, Khine Zin |
Delving into chromatin on the ENCODE portal |
poster |
|
Locke, Devin |
Development of sequence variation graphs and graph-based software for genomics studies |
poster |
|
Lohmueller, Kirk E |
Natural populations of foxes, wolves, and otters reveal the impact of demography on deleterious variation and the genetic basis of inbreeding depression |
talk |
|
Lollar, Matthew J |
Developing Drosophila melanogaster as a model for the genetic basis of early-stage reproductive isolation |
poster |
|
Long, Quan |
Less-is-more and more-is-less in integrating multi-scale ‘omics with polygenic phenotype predictors |
poster |
|
Lu, Zhenyuan |
SciApps.org—A cloud-based platform for reproducible bioinformatics workflows |
poster |
|
Lykoskoufis, Nikolaos |
Putative non-coding regulatory driver discovery using unmatched tumor-normal samples |
poster |
|
Machado, Heather |
Somatic mutational profiling reveals the cellular history of normal human lymphocytes |
poster |
|
Mangul, Serghei |
Profiling immunoglobulin repertoires by RNA Sequencing across 8555 samples from 53 GTEx tissues |
poster |
|
Maretty, Lasse |
SigNet—Identifying mutational processes in cancer using neural networks |
poster |
|
Marinov, Georgi K |
Long-range single-molecule mapping reveals the multikilobase-scale organization of accessible chromatin |
talk |
|
Martin, Hilary C |
Quantifying the contribution of X-linked coding variants to developmental disorders |
talk |
|
Mattsson, Carl-Adam |
A custom bioinformatics pipeline for analyzing Strand-seq data |
poster |
|
McCulloch, Laura H |
Developing a mouse model for identifying neoantigen-specific T cells for adoptive cell transfer |
poster |
|
McDonald, Torrin |
Isolating protein-occupied open chromatin regions |
poster |
|
McVicker, Graham P |
Identifying novel regulatory elements using RELICS, a statistical framework for the analysis of CRISPR regulatory screens |
poster |
|
Mei, Wenbin |
Population genomics of copy number variation in a natural population of maize wild relative teosinte |
poster |
|
Mejia Guerra, Maria K |
Decoding the transcriptional regulatory atlas of the maize leaf |
poster |
|
Mendoza Revilla, Javier |
Tracing the peopling history of the Southwest Pacific through whole genomes |
talk |
|
Metspalu, Mait |
Multiple waves of peopling northeast Europe—An ancient DNA study through Mesolithic to the Middle Ages |
poster |
|
Metzger, Michael J |
Genomic analysis of contagious cancers of clams |
poster |
|
Meyer, Wynn K |
Associating molecular evolutionary rates with convergent metabolic traits in over 200 yeast genomes |
talk |
|
Meyn, Stephen |
Improving clinical assessment of whole genome sequencing data—The CAGI SickKids Challenges |
poster |
|
Mitra, Robi |
Homotypic cooperativity and collective binding are determinants of bHLH specificity and function |
poster |
|
Mittleman, Briana E |
Impact of alternative polyadenylation on gene and protein expression levels in humans |
poster |
|
Morgan, Michael |
Genetic and environmental influences on protein variability in the human immune system |
poster |
|
Morishita, Shinichi |
Recompleting the Caenorhabditis elegans genome |
poster |
|
Moroz, Leonid L |
Prediction of neuronal phenotypes using RNA modifications and genomic dissection of cell compartments in single neurons |
poster |
|
Moroz, Leonid L |
Sequencing of entire brains at the single-cell resolution—Principles of molecular classification and periodic system of neurons |
poster |
|
Moudgil, Arnav |
Joint assay of single cell RNA-seq and transcription factor binding |
talk |
|
Murphy, Rachel L |
Connecting chromatin structure to regulatory function—Extending split-pool recognition of interactions by tag extension (SPRITE) to associate structural complexes with transcriptional regulation |
poster |
|
Nagai, Luis A E |
Genome-wide chromatin structural analysis reveals inter-chromosomal translocations in B-cell lymphoma cell line |
poster |
|
Navarro, Fabio |
LINE-1 activation in cancer and its impact on cancer immunotherapy |
poster |
|
Neufeld, Stanley J |
Clusters of divergent enhancers in the adaptive evolution of natural stickleback populations |
talk |
|
Nguyen, Luong |
Examining the consistency between survey responses and genetic information of AncestryDNA customers |
poster |
|
Nilson, Sara M |
Genomic predictions for selecting locally adapted beef cattle |
poster |
|
Oh, Jin Woo |
Identifying subsets of cell-specific regulatory sequence features from heterogeneous tissue-specific chromatin state data using predictive gapped k-mer features |
poster |
|
Ollila, Hanna M |
Upstream stimulatory factors are pleiotropic meta regulators |
talk |
|
Olson, Andrew |
TBrowse—A modular gene tree viewer for exploring functional conservation |
poster |
|
Olson, Nathan D |
Benchmarks for ‘dark matter’ of the human genome |
poster |
|
Ongen, Halit |
Putative non-coding cis-regulatory drivers in chronic lymphocytic leukaemia and skin cancer |
talk |
|
Ouyang, Ningxin |
Combined DNase footprinting and motif matching model for identification of transcription factor binding sites |
poster |
|
Pai, Athma A |
Computational approaches to estimate the kinetics of mRNA biogenesis |
poster |
|
Pan, Qingfei |
Systems biology analysis of single-cell transcriptomics identifies hidden drivers in tumor microenvironment for metastasis of breast and liver cancers |
poster |
|
Panousis, Nikolaos |
Macromap—A systematic map of condition-specific genetic effects on expression in immune response based in iPSC-derived macrophages |
poster |
|
Park, Sung-Joon |
Host-unmapped NGS reads shape the prevalence of microbial contamination |
poster |
|
Pasaniuc, Bogdan |
Accurate estimation of SNP-heritability from biobank-scale data irrespective of genetic architecture |
talk |
|
Patra, Ayoti |
Improved gkm-SVM regulatory element and TFBS detection incorporating multiple tissue/cell samples and data types |
poster |
|
Pei, Guangsheng |
deTS—Tissue-specific enrichment analysis to decode tissue specificity |
poster |
|
Pereira, Bernard |
The landscape of interactions between germline and somatic variants in cancer |
poster |
|
Pergola, Giulio |
From gene co-expression to brain circuits—Prefrontal gene co-expression networks predict drug response in patients with schizophrenia |
poster |
|
Perrin, Hannah J |
Chromatin accessibility during adipocyte differentiation identifies regulatory elements at cardiometabolic trait GWAS loci |
poster |
|
Persi, Erez |
Repeat-instability in species and cancer evolution |
poster |
|
Peters-Clarke, Trenton M |
Characterization of activated ion-electron transfer dissociation (AI-ETD) reaction kinetics |
poster |
|
Phan, Lon |
SPDI—Data model for variants and applications at NCBI |
poster |
|
Pietilainen, Olli |
Modeling genetic variants predisposing for schizophrenia in human neurons |
poster |
|
Pietrzak, Stefan J |
Determining acquisition of pluripotency with single-cell transcriptomics |
poster |
|
Pinello, Luca |
CRISPResso2—Allele-specific quantification and visualization of genome editing events from CRISPR/Cas9, Cas12A (CPF1) and base editors |
talk |
|
Pinello, Luca |
STREAM—Single-cell trajectories reconstruction, exploration and mapping of omics data |
poster |
|
Pipes, Lenore |
A rapid phylogeny-based method for accurate community profiling of large-scale metagenomic datasets |
talk |
|
Pique-Regi, Roger |
Transcriptional pathways of parturition at single-cell resolution |
poster |
|
Pisupati, Rahul |
Understanding methylation variation within natural lines in Arabidopsis thaliana |
poster |
|
Pitman, Anders |
The IOBIO architecture—High-performance genomic data analysis in the web browser |
poster |
|
Porubsky, David |
Inversion hotspots drive great-ape genome and gene evolution |
poster |
|
Prelot, Laurie |
Detection of local splicing disruptions in cancer |
poster |
|
Price, Amanda J |
Divergent neuronal DNA methylation patterns across human cortical development—Critical periods and a unique role of CpH methylation |
poster |
|
Qiao, Yi |
scBayes—A computational method to study tumor subclone-specific gene expression and chromatin accessibility using single cell RNA sequencing and single cell ATAC sequencing in combination of bulk DNA sequencing |
talk |
|
Qingge, Letu |
Approaching the minimum copy number generation problem in cancer genomics |
poster |
|
Quetier, Francis |
Discordant monozygotic twins pairs to complete the catalog of genes mutations which cause diseases |
poster |
|
Rafati, Nima |
Analysing the joint effect of common and rare variants on human traits, using whole-genome sequencing data and a gene-based approach |
poster |
|
Ramaswami, Gokul |
Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism |
poster |
|
Reimand, Jüri |
Candidate cancer driver mutations in distal regulatory elements and long-range chromatin interaction networks |
poster |
|
Resztak, Justyna A |
Psychosocial experiences and their genetic interactions are associated with transcriptional dysregulation in asthma |
poster |
|
Rivera-Miranda, Teomie S |
Developmental roles of frizzled receptors in butterfly embryos |
poster |
|
Robertson, Catherine C |
Genetic association analysis of type 1 diabetes in > 60,000 ancestrally diverse subjects refines association signals and identifies novel risk loci |
poster |
|
Robles, Christopher R |
The impact of modern human specific sites on human phenotypes |
poster |
|
Rockweiler, Nicole B |
Whole-body maps of postzygotic mutations in humans |
talk |
|
Rodriguez-Flores, Juan L |
Population-specific variants of interest for carrier screening in diverse US hispanics |
poster |
|
Roller, Masa |
Tissue-specific evolution of promoters and enhancers in mammals is associated with transposable elements |
poster |
|
Rose, Ian |
Predisposition towards malignant transformation in the human distal fallopian tube |
poster |
|
Rosenfeld, Jeffrey |
Targeted genotyping of Oxford Nanopore reads empowers clinical applications through high single molecule reference-anchored accuracy |
poster |
|
Rostami, Mahboubeh |
An empirical P-value method for detecting cancer cell of origin from single cell RNA-seq with an application to lung cancer |
poster |
|
Rowan, Troy N |
Detecting signatures of selection and local adaptation in United States Bos taurus beef cattle |
talk |
|
Rozowsky, Joel |
exceRpt—A comprehensive analytic platform for extracellular RNA profiling |
poster |
|
Ruiz-Romero, Marina |
Conserved transcriptional regulatory program brings about tissue differentiation during development |
talk |
|
Ruiz-Romero, Marina |
FLEA-ChIP enables reproducible immunoprecipitation from 100 cells |
poster |
|
Sakamoto, Yoshitaka |
Identification of local copy number aberrations in cancer genomes using nanopore sequencer |
poster |
|
Sakthikumar, Sharadha |
Whole exome sequencing of canine osteosarcoma as a model for the corresponding human disease |
poster |
|
Salichos, Leonidas |
Determining growth patterns and driver effects from mutational frequencies in 994 individual tumors |
poster |
|
Sanchez, Libertine Rose S |
Metagenomic analysis of microbial community composition and screening for metal tolerance genes of cyanobacteria from three mining sites in Benguet Province, Philippines |
poster |
|
Sanders, Ashley |
Surveying structural variation landscapes in single cells by strand-specific sequencing reveals complex genomic rearrangement processes |
talk |
|
Sarropoulos, Ioannis |
Developmental dynamics of lncRNAs across mammalian organs and species |
poster |
|
Sartori, Ambra |
Investigating atherosclerosis progression through single-cell transcriptional profiling of immune cells of the atherosclerotic plaque |
poster |
|
Sasani, Thomas A |
Large, three-generation CEPH families reveal post-zygotic mosaicism and variability in germline mutation accumulation |
poster |
|
Savytska, Natalia |
Retrotransposon activity in frontotemporal dementia |
poster |
|
Schatz, Michael C. |
100 genomes in 100 days—The structural variant landscape in tomato genomes |
talk |
|
Schierup, Mikkel H |
Neanderthal fragments lengths and mutational signatures show different historical generation times in non-African population over the past 50,000 years |
talk |
|
Seaton, Daniel |
Population genetics of in vitro neural differentiation |
poster |
|
Sebby, Karl |
Dissemination of bioinformatics tools and workflows for reusability, findability, understandability through truwl.com |
poster |
|
Sekar, Shobana |
Application of CNVnator to analyze copy number alterations in cancer |
poster |
|
Sella, Guy |
Should “important genes” account for greater heritability in complex traits? |
Talk |
|
Sen, Arko |
A machine-learning method to detect non-coding regulatory variants in cancer genomes using ATAC-seq and ChIP-seq |
poster |
|
Sereewattanawoot, Sarun |
Multi-omics modules construction by non-parametric detection of conservation in features’ ranks correlations in multiple cancers |
poster |
|
Sexton, Brittany S |
Enzymatic Methyl-seq uncovers the regulatory backbone of the Cannabis sativa genome |
poster |
|
Shah, Minita |
Germline and somatic variant calling with NovaSeq™ 6000 2x250bp reads |
poster |
|
Sheltzer, Jason |
Identifying survival-associated biomarkers from >17,000 cancer genomes |
poster |
|
Shen, Ning |
FTX-1821 effectively treat FSHD at its root cause, and specifically repress expression of DUX4 program genes |
poster |
|
Shigaki, Dustin |
Identifying transcription factor binding site motifs from ENCODE epigenomic datasets by mapping position weight matrices to gapped k-mers |
poster |
|
Sigalova, Olga |
Robustness of gene expression to stochastic, environmental and genetic variation is encoded in the genome |
talk |
|
Simons, Yuval B |
Natural selection on mutations affecting human complex traits |
poster |
|
Smith, Jeramiah J |
Genome reprogramming over eons and embryogenesis—Lessons from the sea lamprey (Petromyzon marinus) |
poster |
|
Smith, Jeramiah J |
Improving and using a chromosome-scale assembly of the enormous (32 Gb) axolotl genome |
poster |
|
Snetkova, Valentina |
Enhancer function of ultraconserved elements does not require perfect sequence conservation |
talk |
|
Souto-Maior, Caetano |
Drosophila melanogaster RNA expression patterns in flies selected for long and short night sleep duration |
poster |
|
Stammnitz, Max R |
Tracing the evolution of two transmissible cancers in Tasmanian devils |
poster |
|
Steely, Cody J |
Mobile element insertions and associated structural variants occur early in longitudinal breast cancer samples |
poster |
|
Stein, Joshua |
Gramene subsites—Pangenome browsers for crops |
poster |
|
Strattan, J Seth |
The ENCODE data analysis pipelines are portable workflows for functional genomics |
poster |
|
Strober, Benjamin J |
The impact of rare genetic variation on diverse transcriptomic signatures |
poster |
|
Svetlichnyy, Dmitry |
Evolutionary analysis of sequence divergence of cis-regulatory modules associated with changes in chromatin and gene expression in brain tissue of primates |
poster |
|
Symer, David E |
Human papillomavirus and the landscape of secondary genetic alterations in oral cancers |
poster |
|
Tanner, Georgette |
Assessing the accuracy of pipelines for variant calling, copy number calling, and subclonal deconvolution of heterogeneous tumour genomes |
poster |
|
Tardaguila, Manuel |
Assessment of the impact on transcriptional output of rare fine-mapped intronic variants with large effect sizes on haematological traits in the UK Biobank cohort |
poster |
|
Taylor, James P |
Streamlining accessibility and computability of large-scale genomic datasets with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-Space (AnVIL) |
poster |
|
Telis, Natalie |
Familial language history links with population structure and admixture patterns |
poster |
|
Tello-Ruiz, Marcela K |
Community curation strategies for improving genomic annotations and informing automated gene prediction |
poster |
|
Tello-Ruiz, Marcela K |
Dual triage to identify poorly annotated transcripts in maize—The missing link in community curation |
poster |
|
Thompson, Ammon |
A new method to distinguish functional expression from background noise in transcriptomes |
poster |
|
Tilgner, Hagen U |
Single-cell isoform RNA sequencing in mouse brain reveals isoform expression across cell types |
poster |
|
Timoshevskaya, Nataliya |
DifCover—A computational pipeline for identifying structural variants in complex vertebrate genomes |
poster |
|
Traglia, Michela |
Fundamental biological processes are enriched in genetic sex differences |
poster |
|
Trochet, Holly |
Searching for fertility genes using associations with cardiovascular disease |
poster |
|
Tseng, Alex M |
A novel, population-robust, small-cohort risk stratification method identifies patients with 13-fold risk for cardiovascular disease |
poster |
|
Tsuchiya, Issei |
"Semibulk'' RNA-Seq analysis for revealing local cellular environments |
poster |
|
Tyc, Katarzyna M |
Mathematical modeling of aneuploid conception risk |
poster |
|
Urpa, Lea M |
Rare and common variants in the genetic architecture of intellectual disability in Northern Finland |
poster |
|
Van Hout, Cristopher |
Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank |
poster |
|
Venn, Oliver C |
Tumor shedding into cell-free DNA (cfDNA) is associated with high-mortality cancers |
poster |
|
Venner, Eric B |
Large scale genomic testing for discovery in adult medicine |
poster |
|
Verma, Shefali S |
Leveraging evolutionary drivers of genetic variation reveals complexity underlying diseases across eMERGE epistasis study of 100,000 samples |
poster |
|
Vincent, Elizabeth |
Homozygous Ret loss-of-function leads to precocious differentiation and changes in cell fate of enteric neural crest cells |
poster |
|
Vinuela, Ana |
Non-additive genetic effects on gene expression modulated by cell heterogeneity in whole blood |
poster |
|
Vitting-Seerup, Kristoffer |
Why details matter—The role of alternative splicing in glioblastoma cancer stem cells |
poster |
|
Volkova, Nadezda |
Mutational signatures are shaped by DNA damage and repair |
poster |
|
Vuckovic, Dragana |
The genetic architecture and phenotypic prediction of blood cell production |
talk |
|
Walker, Rebecca L |
Genetic control of expression and splicing in developing human brain informs disease mechanisms |
poster |
|
Wang, Bo |
Haplotyping using full-length transcript sequencing in maize F1 hybrid reveals allele-specific expression |
poster |
|
Wang, Liya |
Access to MaizeCODE data |
poster |
|
Ward, Alistair N |
A web tool for physician-driven clinical diagnostic genomic analysis |
poster |
|
Waterbury, Courtney |
Functional characterization of programmatically eliminated genes in the sea lamprey |
poster |
|
Watkins, Sarah H |
An investigation of DNA methylation correlation structure on the Illumina 450k methylation array |
poster |
|
Williams, Louise |
Enzymatic methyl-seq—Next generation methylomes |
poster |
|
Wojtas, Bartosz |
Mapping genome-wide DNA methylation patterns in gliomas in context of IDH gene mutation status and REST transcription factor binding |
poster |
|
Wolters, John F |
Mitochondrial evolution among diverse yeast species and synthetic mitochondrial genomics tools for functional characterization |
talk |
|
Wong, Emily S |
Early origin of developmental enhancers in animals |
talk |
|
Wright, Carrie |
Assessment of bias and miRNA isoform quantifications of widely-used small RNA sequencing methods reveals major differences |
poster |
|
Wrightsman, Travis |
Predicting differential expression of drought-associated genes in maize |
poster |
|
Wurm, Yannick |
Caste- and pesticide-specific effects of neonicotinoid pesticide exposure on gene expression in bumblebees |
poster |
|
Wurm, Yannick |
Genomic architecture and evolutionary conflict as drivers of expression patterns in a social supergene |
talk |
|
Wyman, Dana |
Building a comprehensive ENCODE long read transcriptome pipeline |
poster |
|
Xavier, Joao B |
Microbiome-host interaction studied directly in humans |
talk |
|
Xi, Wang |
Issues in experimental design in enhancer–promoter interaction prediction |
poster |
|
Xie, Bingqing |
Single cell profiling on siRNA induced c-Myc silencing of human glioblastoma |
poster |
|
Xu, Liu |
Analysis of lung cancer splicing abnormality using Nanopore-sequencing |
poster |
|
Xu, Qi |
Detection of circulating miRNA levels in large cohort schizophrenia |
poster |
|
Xue, Alexander |
Likelihood model to estimate strength of selection and genomic architecture underlying a trait using GWAS summary statistics |
poster |
|
Yang, Xiaofei |
Comparative pan-cancer DNA methylation analysis reveals cancer common and specific patterns |
poster |
|
Yao, Qiuming |
Motif-Raptor—Cell type specific prioritization of transcription factor and genetic variant based on GWAS summary statistics |
poster |
|
Yokoyama, Toshiyuki |
MoMI-G—Modular Multi-scale Integrated Genome Graph Browser |
poster |
|
Yousri, Noha A |
Epigenetics of type 2 diabetes in the Qatari population |
poster |
|
Zaitlen, Noah |
Germline genetic variation drives the somatic landscape of tumors |
poster |
|
Zerbino, Daniel R |
The Ensembl post-GWAS analysis pipeline |
poster |
|
Zhang, Zijun |
Deep learning-augmented RNA-seq analysis of transcript splicing |
poster |
|
Zhao, Nanxiang (Samuel) |
Genome-wide interrogation of human positive regulatory elements |
poster |
|
Zhao, Shuhong |
Comprehensive identification and functional analysis of cis regulatory elements and 3D architecture of the pig genome |
poster |
|
Zhao, Yilin |
Profiling of chromatin accessibility and identification of general cis-regulatory mechanisms that control two ocular lens differentiation pathways |
poster |
|
Zhao, Zhongming |
Novel molecular signatures for heart failure—A cohort study of mRNA, lncRNA, and microRNA expression |
poster |
|
Zimin, Alexey |
Hybrid de novo and reference assisted genome assembly with MaSuRCA |
poster |