Presenting Author |
Abstract Title |
Talk/Poster |
Abyzov, Alexej |
Sensitive detection of low frequency single nucleotide variants from amplicon and capture sequencing data with Leucippus |
poster |
Afik, Shaked D |
Defining the regulatory grammar of human dendritic cells activation |
poster |
Agarwal, Ipsita |
Widespread differences in the mutation spectrum of X and autosomes—Causes and consequences |
talk |
Albers, Patrick K |
Nonparametric estimation of allele age for rare variants in population-scale sequencing data |
talk |
Al-Thani, Nayra |
Open reading frame filtering of Helicobacter pylori genome |
poster |
Alver, Maris |
Recall by genotype and cascade screening for familial hypercholesterolemia in a national biobank from Estonia |
poster |
An, Lin |
Uncovering the hierarchical conformation of topologically associating domains from Hi-C data |
poster |
Arbeithuber, Barbara |
Rare mitochondrial DNA variant analysis in single oocytes using duplex sequencing |
poster |
Artesi, Maria |
Improved high throughput sequencing method to map proviral integration sites and measure clonal abundance |
poster |
Asalone, Kathryn C |
Discovery of the first germline-restricted gene by subtractive transcriptomic analysis in the zebra finch Taeniopygia guttata |
poster |
Asgari, Samira |
A positively selected common missense variant in FBN1 confers a 2.2centimeter reduction of height in the Peruvian population |
poster |
Ashuach, Tal |
MPRAnalyze—A statistical framework for Massively Parallel Reporter Assay (MPRA) data |
poster |
Avsec, Ziga |
Kipoi—Sharing and re-use of predictive models for regulatory genomics |
poster |
Bae, Taejeong |
Discovering somatic mosaic variants with high allele frequency using exhaustive pairwise comparison of single-cell genomes |
poster |
Baggs, Erin |
Aquatic plants have lost a key immune signalling pathway and reveal previously unknown components of immunity |
poster |
Balliu, Brunilda |
Longitudinal study of gene expression and regulation during a critical period of the aging process |
poster |
Ballouz, Sara |
Conservation of transcriptional variation across human, mouse and … armadillo?! |
poster |
Bao, Jessie YJ |
Reprogrammed translation of the insertion sequence IStra in the pathogenic bacterium Streptococcus pyogenes |
talk |
Baranasic, Damir |
DANIO-CODE—A central resource for standardised annotation and re-annotation of whole-genome data for the model vertebrate zebrafish |
poster |
Barrett, Jeffrey |
Using human genetics to give the right patient the right drug—Inflammatory bowel disease as an illustrative example |
talk |
Batra, Rajbir |
Stochastic or deterministic? Decoding the regulatory role and epiclonal dynamics of DNA methylation in 1482 breast tumours |
talk |
Bell, Avery Davis |
28,113 haploid sperm genomes from 18 individuals ascertained by a droplet-based single-sperm sequencing technology |
poster |
Belleau, Pascal |
Genomic and pharmaco-genomic characteristics of pancreatic cancer organoids |
poster |
Berge, Tone |
Proteomic profiling of CD4+ and CD8+ T cells from multiple sclerosis patients and healthy controls |
poster |
Bhardwaj, Vivek |
Quantitative analysis of dosage compensation in Fly brains using transcript 5’ profiling |
poster |
Bhetariya, Preetida J |
Somatic variant calling pipeline for detection of tumor-derived very low frequency variants in cell-free DNA—SomaticTriCaller |
poster |
Billis, Kostas |
Rodents annotation in Ensembl |
poster |
Boeke, Jef |
Writing genomes |
talk |
Bojorquez-Gomez, Ana |
A global transcriptional network connecting noncoding mutations to changes in tumor gene expression |
poster |
Bomba, Lorenzo |
Whole-exome sequencing discoveries of rare genetic variants associated with human blood metabolites |
poster |
Borsari, Beatrice |
Exploring the relationship between expression and chromatin dynamics from a temporal perspective |
poster |
Bossini-Castillo, Lara |
Refined map of gene expression regulation in human CD4 regulatory T cells guides functional fine-mapping of immune disease associated variants |
poster |
Bowler, Megan J |
Bam.iobio—A visual, real-time web-based alignment file inspector adapted for clinician use |
poster |
Brand, Harrison |
An analytical framework for whole genome sequence data and its implications for autism spectrum disorder |
poster |
Brent, Michael R |
The relationship between TF binding and regulation—Rules and exceptions |
poster |
Breton, Gwenna |
High-throughput sequencing data—A proposal of processing pipeline for human population and evolutionary genomics studies |
poster |
Brown, Andrew A |
Fine-mapping regulatory variants across 49 tissues |
poster |
Brownstein, Catherine |
SCN1A variants associated with sudden infant death syndrome |
poster |
Bryan, John M |
Identifying core biological processes distinguishing eye tissues with systems-level gene expression analyses, weighted correlation networks, and single cell RNA-seq |
poster |
Burke, Emily E |
Dissecting transcriptomic signatures of neuronal differentiation and maturation using iPSCs |
poster |
Calderon, Diego |
Characterizing human immune response with implications for understanding autoimmune trait architecture |
poster |
Caliskan, Minal |
Genetic and epigenetic fine mapping of complex trait associated loci in the human liver |
talk |
Cansdale, Bobbie J |
3D-modelling of Hi-C data to investigate the spatial organisation of the canine genome |
talk |
Carninci, Piero |
RADICL-seq—A novel technology for genome-wide mapping of RNA-chromatin interactions |
talk |
Carroll, Andrew |
A comprehensive benchmarking toolkit for sequencing data and analytical tools |
poster |
Carvunis, Anne-Ruxandra |
The genome's reservoir of beneficial proto-genes |
talk |
Chakraborty, Mahul |
Abundant genome structural variation shapes heritable phenotypic variation in Drosophila |
poster |
Chapman, Lesley M |
SVCurator: An app to visualize structural variants for crowdsourcing machine learning labeled data
|
poster |
Chen, Sidi |
Towards mapping functional cancer genome atlases |
talk |
Chhetri, Surya B |
An integrative map of hundreds of DNA binding profiles and DNA methylation landscape in a single cell type |
poster |
Chuang, Jeffrey H |
Evolution of an intratumoral ecology susceptible to successive treatment in breast cancer xenografts |
poster |
Collado Torres, Leonardo |
BrainSeq phase II—Schizophrenia-associated expression differences between the hippocampus and the dorsolateral prefrontal cortex |
talk |
Collins, Mahlon A |
Genetic mapping of ubiquitin-proteasome system activity in large yeast populations |
poster |
Colonna, Vincenza |
Genetic diversity and positive selection for fruit shape in a wide collection of Capsicum species. |
poster |
Cowley, Mark J |
Translating cancer genomics to the clinic, for advanced childhood and rare adult cancers |
poster |
Craig, Sarah J |
Harnessing longitudinal data to derive a new genetic risk score for childhood obesity |
poster |
Cross, Joanna L |
Assessing behavior and anxiety in the Dhcr7T93M/Δ3-5 mouse model of Smith-Lemli-Opitz syndrome |
poster |
Crow, Megan |
Characterizing the replicability of cell types defined by single cell RNA-sequencing data using MetaNeighbor |
poster |
Currant, Hannah |
Understanding variation in human retinal morphology using UK Biobank data |
poster |
Dapas, Matthew |
Quantitative trait meta-analysis identifies rare noncoding variants in DENND1A associated with altered hormone levels in PCOS |
poster |
Dayama, Gargi |
Interactions between the gut microbiome and host gene regulation shed light on the pathogenesis of colorectal cancer in cystic fibrosis patients |
poster |
Dekker, Job |
Folding, unfolding and refolding of genomes |
talk |
Delaneau, Olivier |
Intra- and inter-chromosomal chromatin interactions mediate genetic effects on gene expression |
poster |
Denisko, Danielle |
Motif elucidation in ChIP-seq datasets with a knockout control |
poster |
di Iulio, Julia |
Prioritization of deleterious variants in the regulatory genome by modeling 3D chromatin structure, genome essentiality and allelic expression |
poster |
Di Palma, Federica |
The evolutionary dynamics of microRNAs in domestic mammals |
poster |
Di Sera, Tonya L |
Gene.iobio—An interactive tool for real-time variant interrogation and discovery |
poster |
Diaz, Joey Mark S |
Identification and exclusion of problematic regions in the genome assembly of the Leeds Melanoma Cohort CNV data |
poster |
Djebali, Sarah |
Profiling the landscape of transcription, chromatin accessibility and chromosome conformation of cattle, pig, chicken and goat genomes [FAANG pilot project “FR-AgENCODE] |
poster |
Dobin, Alexander |
Understanding gene regulation via integration of multi-omics data in human tissues |
poster |
Dolgova, Olga |
Deep learning coupled with ABC for the inference of Native American evolutionary history |
poster |
D'Oliveira Albanus, Ricardo |
Information theory analysis of ATAC-seq data predicts local chromatin kinetics and reveals novel aspects of gene regulation and genome organization |
talk |
Dolzhenko, Egor |
Detection of pathogenic repeat expansions from high-throughput whole-genome sequence data |
poster |
Dougherty, Max L |
Transcriptional fates of human-specific duplicate genes |
poster |
Dreszer, Timothy R |
Accessing ENCODE project data using a REST API and JSON objects |
poster |
Dudchenko, Olga |
De novo assembly of mammalian genomes with chromosome-length scaffolds, from short reads, for under $1000 |
talk |
Dukler, Noah |
Characterizing lineage specific cis-regulatory evolution |
poster |
Durkin, Keith W |
The landscape and evolution of somatic mutations in bovine leukemia virus induced tumors |
poster |
Ekawade, Aditya |
Genepanel.iobio—An interactive web application to generate lists of prioritized genes |
poster |
Fairley, Susan |
Supporting users of the 1000 Genomes Project data and improving data resources in the International Genome Sample Resource (IGSR) |
poster |
Fan, Shaohua |
Ancient African substructure inferred from whole genome sequence data |
poster |
Farrell, Andrew R |
RUFUS—Reference free variant detection improves accuracy and sensitivity |
poster |
Fijarczyk, Anna |
Reconstructing the sequence of events—Introgression and rapid divergence in recently emerged tree pathogens |
poster |
Findlay, Gregory M |
Accurate functional classification of thousands of BRCA1 variants with saturation genome editing |
talk |
Findley, Anthony S |
Genetic and environmental effects on gene regulation in the vascular endothelium |
poster |
Fitzgerald, Tomas W |
The inbred Medaka Kiyosu panel |
poster |
Freeberg, Mallory |
The Human Cell Atlas Data Coordination Platform |
poster |
Fresard, Laure |
Identification of rare-disease genes from RNA-seq of undiagnosed cases using large control cohorts |
poster |
Gagneur, Julien |
Proteogenomic characterization of human tissues reveals mRNA motifs controlling protein abundance |
poster |
Galante, Pedro |
SANDY—A straightforward and streamlined next-generation sequencing read simulator |
poster |
Gambogi, Craig W |
The molecular requirements for epigenetic establishment of centromeres depend on the underlying DNA |
poster |
Gardner, Eugene J |
Contribution of retrotransposition to developmental disorders |
poster |
Garrido, Diego |
Identification and analysis of splicing quantitative trait loci in GTEx |
poster |
Garrison, Erik |
Variation graphs for efficient unbiased pangenomic sequence interpretation |
talk |
Gasperini, Molly J |
CRISPR-QTL mapping as a genome-wide association framework for cellular genetic screens |
talk |
Geller, Evan |
Big brains—What high-throughput enhancer knockouts reveal about human cortical evolution |
poster |
Genovese, Giulio |
Differential allelic drop-out with parent-of-origin effects due to G-quadruplexes at imprinted loci in whole genome sequence data from PCR libraries |
poster |
Georges, Stephanie |
A web tool for interpreting genomic patient data in the context of large disease cohort datasets |
poster |
Gerstein, Mark B. |
Integrative analysis of allele-specific expression, transcription factor binding, and chromatin state in multiple human tissues. |
poster |
Gheorghe, Marius |
ChIP-eat: from raw ChIP-seq reads to high quality TFBS prediction |
poster |
Glassberg, Emily |
Measurement of genome-wide selective constraint on human gene expression |
poster |
Glinos, Dafni A |
The role of T cell stimulation intensity in the expression of immune disease genes |
poster |
Godfrey, Alexander K |
Expression patterns of Y-chromosome genes across human tissues and individuals |
poster |
Goren, Alon m |
Study of the mitotic chromatin shows involvement of histone modifications in bookmarking and reveals nucleosome deposition patterns |
poster |
Gou, Liangke (Connie) |
The genetic basis of mutation rate variation in yeast |
poster |
Granka, Julie M |
Implications of post-colonial demographic structure on association analyses and their interpretation |
poster |
Griffiths, Jonathan |
Charting the diversification of mammalian cells at whole organism scale |
talk |
Gulko, Brad |
Hominin selective pressure drives cell type sensitive epigenomic segmentations at base pair resolution |
poster |
Gupta, Meenal |
Elucidating the genetic defects underlying radiation hypersensitive phenotypes through whole genome and exome sequencing |
poster |
Gymrek, Melissa A |
A reference haplotype panel for genome-wide imputation of short tandem repeats |
poster |
Hahaut, Vincent P |
Exploring the function of non-coding viral transcripts in bovine leukemia virus induced leukemia |
poster |
Hajirasouliha, Iman |
An alignment and reference free approach to deconvolve linked-reads for metagenomics |
poster |
Hannibal, Roberta |
Mechanistic insight into the bioactivity of a novel bacterial protein for the treatment of inflammatory bowel disease |
poster |
Hansen, Matthew |
Population structure of the human gut microbiome across ethnically diverse sub-Saharan Africans |
talk |
Hardison, Ross |
Systematic integration of epigenomes via IDEAS paints the regulatory landscape of hematopoiesis |
poster |
Hardwick, Simon A |
Transcriptional complexity of non-coding genomic regions associated with brain phenotypes |
poster |
Harris, Ronald A |
Primate intra- and inter-species chromosome 19 variation in the context of the regulatory methylome |
poster |
Havrilla, James |
A map of constrained coding regions in the human genome |
poster |
Hayward, Laura K |
Polygenic adaptation in response to a sudden change in the environment |
talk |
Hefferon, Tim |
dbVar—Toward a human structural variation reference set (alpha release) |
poster |
Hejase, Hussein |
Inference of selective sweeps based on the ancestral recombination graph in rapid avian radiation |
poster |
Helkkula, Pyry H |
Enriched loss-of-function variants in ANGPTL4 and ANGPTL8 associate with lower risks of cardiometabolic diseases |
poster |
Hill, Andrew J |
A first generation atlas of in vivo mammalian chromatin accessibility at single cell resolution |
poster |
Hoffman, Gabriel |
Functional interpretation of genetic variants using deep learning |
poster |
Huang, Xiaomeng |
Reconstruction of subclonal tumor evolution from rapid autopsy data reveals novel patterns of aggressive metastatic colonization |
poster |
Huang, Zhuoyi |
A survey of 220,000 people from all of China demonstrates that complex population genetic processes have shaped Chinese genomes |
poster |
Hubel, Christopher |
Multi-polygenic risk scoring to define anorexia nervosa subtypes |
poster |
Hutton, Elizabeth |
Genotype-fitness mapping in cancer cell lines using CRISPR-Cas9 |
poster |
Im, Hae Kyung |
Phenomewide consequences of gene expression variation in humans |
poster |
Imielinski, Marcin |
Signatures of complex structural variation across thousands of cancer whole genomes |
talk |
Iwabuchi, Sadahiro |
New methods for detecting mouse T cell receptor repertoire with single cell gene expression |
poster |
Jakobsson, Mattias |
Sequence-based approaches utilizing complete modern and ancient genomes to investigate early human history |
talk |
Jiang, Chao |
Dynamic human environmental exposome revealed by longitudinal personal monitoring |
poster |
Juettemann, Thomas |
The EMBL-EBI Genome Editing Catalogue |
poster |
Jungreis, Irwin |
A new workflow built on whole-genome PhyloCSF discovers hundreds of human protein-coding genes, exons, and pseudogenes, shedding light on many disease associations |
poster |
Justice, Monica |
Informing human genetic variation and therapeutic entry points through modifier screens in mice |
talk |
Karaderi, Tugce |
Genome-wide meta-analysis of polycystic ovary syndrome in women of European ancestry identifies novel loci |
poster |
Karczewski, Konrad |
The spectrum of loss of function tolerance in the human genome |
poster |
Karpe, Snehal D |
InsectOR—A web-server to identify olfactory receptor genes from insect genomes |
poster |
Kashima, Yukie |
Combinatory use of two scRNA-seq analytical platforms reveals the heterogenous transcriptome response in lung adenocarcinoma cell lines |
poster |
Kawaji, Hideya |
DTH—Directory to Track Hub |
poster |
Kedzierska, Katarzyna Z |
Differential mutation analysis across gene sets in cancers |
poster |
Kellis, Manolis |
High-resolution genome-wide functional dissection of transcriptional regulatory regions in human |
poster |
Kelly, Derek E |
Identifying the genetic and environmental determinants of gene expression variation in Africans |
poster |
Kentepozidou, Elsa |
CTCF binding evolution helps maintain the integrity of topologically associating domains |
poster |
Kerpedjiev, Peter S |
Fast visual exploration of hundreds of genome-wide datasets |
poster |
Kim, Jaemin |
Whole genome sequence reveals selection for muscle, cardiovascular and neuronal genes in sport hunting dogs |
talk |
Kim-Hellmuth, Sarah |
Estimating cell type abundance in GTEx enables insights into cellular mechanisms and origins of eQTLs |
poster |
King, James W |
Identifying signatures of divergence in regulatory DNA across mammals |
poster |
Koren, Amnon |
The genetic architecture of human DNA replication origin activity |
talk |
Korsunsky, Ilya |
Single cell RNAseq and immunofluorescence imaging of joint stroma in rheumatoid arthritis reveals spatial organization of fibroblasts remodeled under inflammation |
poster |
Koshinsky, Heather |
To genotype? To sequence? Biology of genomes to omnia vitae |
poster |
Krasileva, Ksenia |
Evolution of NLR immune receptors in flowering plants |
poster |
Kumar, Vivek |
Advancing collaborative research in systems biology using open-science, cyberinfrastructure of KBase |
poster |
Kundu, Kousik |
Single-base resolution of autoimmune disease associations using molecular phenotypes |
poster |
Lakshmanan, Shyam |
A CRISPR/Cas9-mediated screen of candidate genes in the regulation of optic fissure closure |
poster |
Lambert, Jason |
In vivo deployment of a massively parallel reporter assay for the validation of enhancers active in postnatal brain development |
poster |
Lau, Billy |
Single-cell multi-omic analysis of intratumoral heterogeneity and immune lineages in patient tumors for precision oncology |
poster |
Layer, Ryan M |
Mining thousands of genomes for reliable structural variant population allele frequency estimates |
poster |
Lea, Amanda |
Genotype and disease shape molecular co-regulation |
poster |
Lee, Dillon H |
A graph-based framework for unified identification of short and structural genetic variants in whole-genome sequencing data |
poster |
Levene, Stephen |
Extrachromosomal circular DNA (eccDNA) is a possible mediator of chromosomal polymorphism at multiple loci. |
talk |
Li, Dawei |
A novel approach for discovering oncoviruses in human cancers using whole-genome sequencing |
poster |
Li, Robert W |
Parasite induced changes in the gut microbiome and their pathophysiological implications |
poster |
Liao, Jingqiu |
Serotype-specific evolutionary pattern of antimicrobial-resistant Salmonella enterica |
poster |
Ling, Emi |
Regulation of cell type-specific enhancer commissioning by growth factor signaling |
poster |
Lipovich, Leonard |
Global lncRNA proteogenomics with Riboseq and mass spectrometry pinpoints persistent ribosomal in-frame mis-translation of stop codons as amino acids in multiple open reading frames of a human long non-coding RNA |
poster |
Long, Quan |
Fast, memory-efficient decomposition of prohibitively large genetic relatedness matrices |
poster |
Luca, Francesca |
Variation in microbiome composition impacts human gene expression by changing chromatin accessibility |
talk |
Ma, Jianzhu |
Using deep learning to model the hierarchical structure and function of a cell |
poster |
Mahler, Niklas |
Integrating genetic variation with metabolite abundance and gene expression in Populus tremula |
poster |
Mak, Lauren |
PoolHap2—De novo haplotype reconstruction from pooled pathogen next-generation sequencing data |
poster |
Malik, Naveen |
Transcriptomics analysis of Candida glabrata treated with thymoquinone using RNA-seq |
poster |
Marom, Shani |
The dynamics of mtDNA chromatin-like organization during metazoan embryogenesis |
poster |
Martin, Hilary C |
Quantifying the contribution of recessive coding variation to developmental disorders |
poster |
Masutani, Bansho |
Detection of DNA of a low abundance by a handy sequencer and a palm-size computer |
poster |
Mbunwe, Eric |
Characterization of HLA alleles from targeted and whole genome sequences of ethnically diverse African populations |
poster |
McAllester, Christopher S |
Inversions help maintain sexually antagonistic balanced polymorphism |
poster |
McCarthy, Davis J |
Studying clonal cell populations with bulk exome and single-cell RNA-sequencing data |
poster |
McKenna, James |
Testing robustness in the 'TT Method’—A simple and analytical method to infer model parameters under a split model |
poster |
McMahon, Francis |
Transcriptome diversity and alternative splicing of brain-expressed transcripts in adult psychiatric disorders |
poster |
Meyn, Stephen |
Trio whole genome sequencing as a tool for gene discovery and genetic diagnosis in children with medical complexity |
poster |
Miller, Chase A |
Comprehensive quality control of many samples using iobio |
poster |
Min, Josine |
250,000 independent genetic influences on DNA methylation and the consequences of these perturbations—The GoDMC Consortium |
poster |
Mishmar, Dan |
A common pattern of DNase-I footprinting throughout the human mtDNA unveils clues for a chromatin-like organization |
poster |
Mishmar, Dan |
Human primitive brain displays negative mitochondrial-nuclear expression correlation of respiratory genes |
poster |
Mohammadi, Pejman |
Using allelic expression data for studying rare disease biology |
talk |
Morgante, Michele |
Transposable elements, structural variation and the grapevine pan-genome |
poster |
Moroz, Leonid L |
NeuroSystematics and periodic system of neurons—Insights from millions of neurons sequenced across phyla |
poster |
Moscou, Matthew J |
An ancient integration in a plant NLR is maintained as a trans-species polymorphism |
poster |
Mudge, Jonathan |
The expansion and reconfiguration of the GENCODE lncRNA catalogs |
poster |
Munch, Kasper |
Multiple selective sweeps removed Neanderthal admixture on the X chromosome in out-of-Africa populations |
talk |
Munoz, Manuel |
Characterizing transcriptomic variation across human phenotypes by integrating RNAseq data with histopathology images and annotations |
poster |
Nakka, Priyanka |
Incidence of uniparental disomy in 2 million individuals from the 23andMe database |
poster |
Naqvi, Sahin |
Stepwise evolution of sex-biased gene expression in mammalian tissues |
poster |
Navarro, Fabio CP |
Comprehensive survey of LINE-1 transcriptional activity in human cell lines, healthy tissue, and tumors |
poster |
Neibergs, Holly L |
Identification of loci associated with embryonic and fetal loss in Holstein heifers |
poster |
Nelson, Dominic |
An extended msprime coalescent simulation framework avoids biases from large sample sizes, and increases performance when simulating long regions |
poster |
Nicholas, Thomas J |
Expanding GEMINI to annotate and prioritize subclonal mutations in heterogeneous tumors |
poster |
Niemi, Mari |
Common genetic variation contributes to risk of rare developmental disorders |
talk |
Nishijima, Suguru |
Epidemiological exploration of factors contributing to the population-level diversity in the human gut microbiome |
poster |
Nodzak, Conor M |
Prediction of B-cell acute lymphoblastic leukemia subtypes from the expression of long noncoding RNAs and protein coding genes within common topologically associated domains |
poster |
Notwell, Jim |
Merging gene annotations enables high-resolution cell type identification |
poster |
Oak, Ninad |
ADmiRE—Annotation of microRNA sequence variation across human population and adult cancer datasets |
poster |
Oda, Arisa |
Artificial genome rearrangement system using a restriction enzyme |
poster |
O'Donnell-Luria, Anne |
The Rare Genomes Project—Improving our ability to diagnose rare genetic conditions through a nationwide partnership with families |
poster |
Oliva, Meritxell |
Biological factors strongly impact cell type abundances in human tissues |
poster |
Onate, M. Kathrina C |
A searchable catalogue of validated antibodies used in the ENCODE Project |
poster |
Ono, Yoko |
Concurrent analysis of gene expression of complexed samples which consist of different species—Analysis of human and mouse gene expression in the liver from chimeric mouse treated with KMTR2 |
poster |
Ostrander, Elaine A. |
Catalog of 91 million variants extracted from whole genome sequence of 722 canids reveals new variants associated with morphology, life-span and behavior |
talk |
Pallares, Luisa F |
Patterns of robustness and deregulation in gene expression networks under dietary stress |
poster |
Pedersen, Brent S |
What did we miss? Quantifying and visualizing variant detection power in sequencing studies |
poster |
Phan, Lon |
NCBI services for variant normalization, remapping, and annotation |
poster |
Phillippy, Adam |
Complete assembly of parental haplotypes with trio binning |
poster |
Pinello, Luca |
CRISPR-SURF—Exploratory and interactive software for analyzing CRISPR-based tiling screens |
talk |
Pinto, Yishay |
Antiviral enzyme APOBEC3G introduces clustered inherited mutations that fuel adaptation in human populations |
poster |
Pique-Regi, Roger |
centiSNPs—A compendium annotation to analyze eQTLs in heterogeneous tissues |
poster |
Plon, Sharon |
Cancer risk among children with non-chromosomal birth defects in the Genetic Overlap Between Congenital Anomalies and Cancer in Kids (GOBACK) study—A population-based assessment in 10 million live births |
talk |
Pritchard, Jonathan |
Trans-acting effects on gene expression drive omnigenic inheritance of complex traits |
talk |
Przytycka, Teresa M |
NetREX-Network Reprogramming using Expression—Uncovering sex-specific gene regulation in Drosophila |
poster |
Qiao, Yi |
Identification of subclone-specific tumor cellular phenotypes by single-cell assignment to bulk DNA-derived subclones. |
poster |
Ragsdale, Aaron P |
Efficient and exact computation of linkage statistics for inference |
poster |
Ramstein, Guillaume P |
Using neural networks to predict gene expression—Application in genomic selection for field traits in maize |
poster |
Ratsch, Gunnar |
Comprehensive alternative splicing analysis of 8,512 TCGA donors |
poster |
Ratsch, Gunnar |
Pan-cancer study of heterogeneous RNA aberrations and association with whole-genome variants |
poster |
Razaz, Parisa |
Dissecting tissue-specific functional networks associated with 16p11.2 reciprocal genomic disorder using CRISPR engineered human iPS and mouse models |
talk |
Reales, Guillermo |
The relationship between evolutionary rates, expression and gene duplication in the serotonergic system |
poster |
Reman, Bethany |
NextGen sequence profiling of eukaryotic diversity in deep subsurface biofilms |
poster |
Rhie, Arang |
The Genome10K Vertebrate Genomes Project—Building de novo reference genomes for all vertebrate orders |
talk |
Rodriguez-Martinez, Jose A. |
DNA binding preferences of Heliconius optix transcription factor |
poster |
Roedelsperger, Christian |
Deep taxon sampling reveals the evolutionary dynamics of novel gene families in Pristionchus nematodes |
poster |
Rogers, Jeffrey |
Fine-scale mapping reveals dramatically lower rates of recombination in rhesus macaques than in humans or great apes |
poster |
Roller, Masa |
Tissue-specific enhancer and promoter evolution in mammals |
talk |
Rosenbloom, Kate |
GTEx resources and new ‘barChart’ and ‘interaction’ track displays inspired by GTEx in the UCSC Genome Browser |
poster |
Rosenfeld, Jeffrey A |
Long read sequencing of tumor DNA to analyze fusions and amplicons |
poster |
Roychowdhury, Tanmoy |
Stabilizing role of early Alu expansion via non-allelic homology directed repair of spontaneous DSBs in germline |
poster |
Ruderfer, Douglas |
Significant shared heritability underlies suicide attempt and clinically predicted probability of attempting suicide |
poster |
Runtuwene, Lucky R |
Comprehensive analysis of antimalarial drug resistance in malaria parasite using portable DNA sequencer |
poster |
Sankararaman, Sriram |
The impact of Neanderthal ancestry on human phenotypes |
talk |
Santos, Sergio |
Assessing the usage of alternative transcripts in human tissues from RNA-seq |
poster |
Sasani, Thomas A |
Directly measuring the dynamics of the human mutation rate using large, multi-generational pedigrees |
poster |
Schatz, Michael C. |
Analyzing multi-omic instability in breast cancer with nanopore sequencing of patient-derived organoids |
poster |
Schierup, Mikkel Heide H |
Direct estimation of mutations in great apes reveals significant recent human slowdown in the yearly mutation rate |
poster |
Schneider, Valerie A |
Something old, something new—Resources for assembly curation and evaluation |
poster |
Schwartz, Gregory |
HeatITup identifies ITD structural features determining AML patient response to FLT3 inhibitors. |
poster |
Sedlazeck, Fritz J. |
Structural variation in 35,600 multi-ethnic human genomes and its implication for the genetic architecture of health and disease |
poster |
Semick, Stephen A |
Brain region-specific DNA methylation correlates of schizophrenia and its genetic and developmental risk |
poster |
Sereewattanawoot, Sarun |
Identification of potential regulatory mutations using multi-omics analysis and haplotyping of lung adenocarcinoma cell lines |
poster |
Sharon, Eilon |
Functional genetic variants revealed by massively parallel precise genome editing |
talk |
Shcherbina, Anna |
Transfer learning approaches for robust fine-mapping of putative causal regulatory variants associated with colorectal cancer |
poster |
Shen, Max W |
Predictable and precise template-free CRISPR repair of disease mutations |
talk |
Shen, Ning |
Small molecule modulation of the D4Z4 locus transcriptional activity in FSHD |
poster |
Sherlock, Gavin |
Exploring the joint distribution of fitness effects for beneficial mutations in yeast |
talk |
Shi, Xinghua Mindy |
New strategies toward scaling up epistasis analysis on large-scale genomic datasets |
poster |
Shimizu, Atsushi |
iMETHYL—An integrative human multi-omics QTL database for 3 blood cell types |
poster |
Short, Patrick J |
The contribution of de novo mutations in ultra-conserved regulatory elements to neurodevelopmental disorders and autism spectrum disorder |
talk |
Shoura, Massa |
Affairs of the heart—How eccDNA-mediated scars in the TTN gene may contribute to myofiber diversity |
talk |
Simon, Michelle
|
The predictive capacity of regulatory elements to impact mammalian phenotypes |
poster |
Smirin-Yosef, Pola |
A study of ethnic polymorphic copy number variations in the Israeli population |
poster |
Smonskey, Matthew T |
CHO-Omics Review—The impact of current and emerging technologies on Chinese hamster ovary based bioproduction |
poster |
Song, Wei |
Dichotomy in redundant enhancers reflects differences in sequence encryption and gene regulatory mechanisms |
poster |
Stranger, Barbara |
Sex differences at the molecular level—Lessons from the human transcriptome |
poster |
Strattan, J Seth |
The ENCODE Annotation Pipeline—Software architecture for reproducible analyses of ChIP-seq, RNA-seq, Dnase-seq, ATAC-seq, HiC ,ChIA-PET, and whole-genome bisulfite experiments |
poster |
Strober, Benjamin J |
Dynamic effects of genetic variation on gene expression during cellular differentiation |
talk |
Subramaniam, Meena |
Population scale single cell sequencing to reveal context specific effects of SLE variants |
talk |
Suzuki, Yuta |
A statistical method enables to estimate personal diploid methylome and transcriptome with long reads |
poster |
Takayasu, Lena |
Monitoring changes in gut microbiomes throughout the life in mice |
poster |
Tello-Ruiz, Marcela K |
Gramene—Unifying comparative genomics and pathway resources for plant communities |
poster |
Thakur, Rohit |
Application of machine learning to primary melanoma transcriptomes to predict prognosis in a population-based cohort |
poster |
Tipireddy, Shubhakar Reddy |
An endeavor to assemble human centromeres from long reads |
poster |
Tishkoff, Sarah |
Novel loci associated with skin pigmentation identified in African populations |
talk |
Trejo Banos, Daniel |
Joint modeling of genetic and epigenetic effects for complex phenotypes |
poster |
Treusch, Sebastian |
High-throughput single-cell DNA sequencing using droplet microfluidics |
poster |
Truong, David M |
Resurrection of histone H3 K27 methylation in Brewer's yeast by human PRC2 and plant ATXR6 |
talk |
Trynka, Gosia |
Functional fine-mapping of asthma and IBD association at 11q13.5 suggests a Treg-specific enhancer that drives STAT5-responsive expression of GARP |
poster |
Urban, Lara |
Assessing the impact of gene regulatory variation on mutational processes active in cancer |
poster |
Vaccarino, Flora |
Integrative multi-omics analyses of iPSC-derived brain organoids identify early determinants of human cortical development |
talk |
Varshney, Arushi |
Genetics effects on enhancer activity in human pancreatic islets |
poster |
Velinder, Matthew |
Iterative reanalysis using novel genomic research tools improves clinical exome diagnostic yield in complex undiagnosed disease cases |
poster |
Vinuela, Ana |
T2D disease status alters the effects of genetic variation on molecular phenotypes—A DIRECT study |
poster |
Vosa, Urmo |
Trans-eQTL meta-analysis in more than 31,000 blood samples associates downstream genes and pathways with polygenic risk |
poster |
Wade, Alexandria A |
Disruptions to RNA processing and gene regulation as convergent mechanisms associated with mutation to CHD8 |
poster |
Wang, Hai |
Dissecting transcriptional regulation by machine learning |
poster |
Wang, Ming-Qiang |
Hybrid de novo assembly of Branchiostoma belcheri Beihai amphioxus genome |
poster |
Ward, Alistair N |
Including medical professionals in the hands-on practice of genomic data analysis—Clinician-driven analysis of genomic patient data |
poster |
Ward, Michelle C |
Species-specific transcriptional changes in response to oxidative stress in iPSC-derived cardiomyocytes from humans and chimpanzees |
poster |
Wei, Sharon |
Gramene maize pan-genome browser |
poster |
Wheelan, Sarah |
Retrotransposon expression in human cells |
poster |
Wick, Heather |
CHADfinder—A computational method to evaluate multiplex PCR amplicon quality and primer behavior for iterative optimization |
poster |
Winden, Eamon M |
Molecular tethers for very large DNA molecules |
poster |
Wrzesinski, Tomasz M |
Nanopore sequencing reveals the transcriptional complexity of neuropsychiatric disease genes in human brain |
poster |
Wu, Kou-Juey |
A novel lncRNA MAHAC is essential for hypoxia-induced histone modification and tumor progression |
poster |
Wurm, Yannick |
Brain gene expression response to pesticide exposure indicates effects on cognition |
poster |
Wurm, Yannick |
Degenerative expansion of a young "social chromosome" supergene |
poster |
Yadav, Rachita |
Dissecting the causal mechanism of X-linked dystonia-parkinsonism by integrating genome and transcriptome assembly |
poster |
Yeung, Jake |
Clock-dependent chromatin topology modulates circadian transcription and behavior |
talk |
Yu, Qi |
Genetic recombination is not limited to hotspots in dog meiosis |
poster |
Zarate, Samantha L |
Parliament2—Benchmarking a structural variant consensus caller compared to individual methods |
poster |
Zhang, Feng |
Advances in genome editing technologies |
talk |
Zhao, Xuefang |
Integration and assembly of extant sequencing technologies to enable complete structural variation discovery and phasing |
poster |
Zhao, Yuehui |
Identification of a beneficial, complex, genetic rearrangement in rcan-1, an ortholog of the down syndrome critical region protein 1 (DSCR1/RCAN1), in a laboratory strain of C. elegans |
poster |
Zhao, Zhongming |
Mega-analysis of odds ratio (MegaOR)—A convergent method for deep understanding the genetic evidence in schizophrenia |
poster |