Presenting Author |
Abstract Title |
Talk/Poster |
Abyzov, A. |
Somatic mosaic variations in healthy skin fibroblasts |
poster |
Adhikari, B. |
Whole genome sequencing and analysis of aflatoxin-producing and atoxigenic Aspergillus flavus genotypes |
poster |
Afik, S.D. |
Uncovering the regulatory landscape of dendritic cells response to pathogens |
poster |
Albert, F.W. |
Trans-regulatory architecture of genetic transcriptome variation from 1,000 yeast individuals |
talk |
Amorim, C.E.G. |
The population genetics of human disease—The case of recessive lethal mutations |
poster |
Armean, I. |
Functional validation of human protein-truncating genetic variants |
poster |
Asgari, S. |
Loss-of-function mutations in IFIH1 predispose to severe viral respiratory infections in children |
talk |
Athanasiadis, G. |
Inference of local ancestry based on admixture graphs |
poster |
Ballouz, S. |
Assessment of functional convergence across study designs in autism |
poster |
Barber, G. |
New UCSC Genome Browser Views—Exon-only, gene-only, alternate haplotypes, and custom regions |
poster |
Baris, T.Z. |
Adaptive epistasis—Nuclear-mitochondrial interactions select for different genotypes |
poster |
Barreiro, L.B. |
Road map of the genetic and evolutionary forces driving population differences in immune responses to infection |
poster |
Barrett, J.C. |
Genetic connections between schizophrenia, autism and neurodevelopment |
talk |
Bartanus, J.R. |
Functional prioritization of structural variants through a combinatorial approach for identifying loci under purifying selection |
poster |
Bar-Yaacov, D. |
Protein recoding by RNA editing in bacteria |
poster |
Battle, A. |
Predicting the regulatory impact of rare non-coding variation |
talk |
Batzoglou, S. |
Unveiling subpopulation structures in large-scale single-cell RNA-seq experiments with a novel similarity-learning framework |
poster |
Baudry, L. |
A multi-scale, probability-based approach to solving poorly assembled genomes using chromosome contact data |
poster |
Bertranpetit, J. |
Natural selection in functional pathways—An approach to evolutionary systems biology |
poster |
Bhérer, C. |
The genomic and epigenomic properties of sexual dimorphism in human meiotic recombination |
poster |
Bhutani, K. |
Modeling prediction error improves power of transcriptome-wide association studies |
poster |
Bishara, A. |
Read clouds enable accurate haplotype-resolved assembly of complex regions of the human genome |
poster |
Blake, L.E. |
Assessing the contribution of DNA methylation to regulatory evolution in primates |
poster |
Blekhman, R. |
Prediction of colorectal tumor mutations using the gut microbiome |
talk |
Boettger, L.M. |
Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels |
poster |
Bonas Guarch, S. |
Identification of seven novel susceptibility loci for type 2 diabetes through genotype imputation based meta-analysis in 70,000 European individuals |
poster |
Bose, A. |
Genetic variation reveals the history of invasions in the Indian subcontinent and its influences on its demographics |
poster |
Bosio, M. |
eDiVA—Exome sequencing analysis pipeline for disease gene identification |
poster |
Breitwieser, F.P. |
Centrifuger—Interactive analysis of microbiomics data for pathogen identifcation |
poster |
Brown, C.B. |
Genetics of local gene expression across 44 human cell types |
talk |
Brownstein, C. |
Gene discovery in childhood-onset schizophrenia including a novel mutation in ATP1A3 |
poster |
Burga, A. |
A genetic signature of flightlessness evolution in the Galapagos cormorant (Phalacrocorax harrisi) revealed by predictive genomics |
talk |
Burt, D. |
Annotation of the chicken and other avian genomes |
poster |
Busby, G. |
Evidence for adaptive gene-flow in recent African history |
poster |
Cagan, A. |
Genetic variants contributing to tame behavior in domesticated animals |
poster |
Campbell, C.R. |
Rates of evolution among sperm genes and implications for speciation in a small nocturnal primate, genus Microcebus |
poster |
Carninci, P. |
SINEUPs, a new class of translation regulatory RNAs—From function to future gene therapy |
talk |
Castellano, S. |
Genetic adaptation to levels of selenium in the diet in humans and other vertebrates |
poster |
Chaisson, M.J. |
Partitioning single-molecule sequencing from sequence paralogs de novo |
poster |
Chan, E.T. |
Integrated metadata-driven access of ENCODE, modENCODE, REMC, GGR, and modERN data through a common portal |
poster |
Chang, T. |
<u>D</u>ifferential microbial composition associated with asthma |
poster |
Charlier, C. |
A polymorphic ERV element that is mobilized in the germline at a rate that varies between individuals causes cholesterol deficiency by disrupting the bovine ApoB gene |
poster |
Chen, N. |
Genomic patterns of selection through time in a wild pedigreed population |
talk |
Chiang, C. |
SVTools—Scalable SV detection and interpretation for population-scale WGS studies |
poster |
Church, D.M. |
Fully phased assembly of HLA genes using linked-reads |
poster |
Ciccarelli, F. |
Inherited damaging mutations in immune-related genes favour the development of genetically heterogeneous synchronous colorectal cancer |
poster |
Clark, M.D. |
Unlocking bread wheat genome diversity with new sequencing and assembly approaches |
poster |
Collins, R.L. |
Uncovering the diversity of complex structural variation in 465 autism genomes with multiple whole-genome sequencing technologies |
poster |
Corioni, M. |
Advanced applications for clinical research exomes |
poster |
Corominas, M. |
Deciphering the regulatory transcriptional network controlling regeneration |
poster |
Cowley, M.J. |
Clinically accredited WGS as a first line diagnostic test for patients with Mendelian disorders |
talk |
Cremona, M.A. |
Integration and fixation preferences of human and mouse endogenous retroviruses uncovered with functional data analysis |
poster |
Crouch, K.M. |
EuPathDB—Integrating eukaryotic pathogen genomics data with advanced search capabilities |
poster |
Crow, M. |
Exploiting single cell expression heterogeneity to characterize co-expression replicability |
poster |
Cui, H. |
Effect-specific analysis of pathogenic SNVs in human interactome—Insights into dynamic organization of the molecular network underlying complex disease |
poster |
Cummings, B.B. |
Improving genetic diagnoses in Mendelian disease with whole genome and RNA sequencing |
talk |
Dapper, A.L. |
The effects of demographic history on the detection of recombination hotspots |
poster |
de Groot, T.E. |
Functional assays for in vitro characterization of multiple myeloma cancers |
poster |
de Hoon, M.J. |
Functional annotation of long non-coding RNAs in FANTOM6 |
poster |
de Lange, K. |
Whole genome sequencing and imputation further resolves genetic risk for inflammatory bowel disease |
poster |
DeBoever, C.M. |
Genetic determinants of gene expression in a collection of 215 human induced pluripotent stem cells |
poster |
Delaneau, O. |
From regulatory variants to gene expression—Disentangling local regulatory networks |
poster |
Demeulemeester, J. |
Tracing the origin of disseminated tumor cells in breast cancer using single-cell sequencing |
poster |
Demmitt, B.A. |
The heritability of the oral microbiome |
talk |
Di Sera, T.L. |
Gene.iobio—A visual, web based, real-time variant analysis tool |
poster |
DiGiovanna, J. |
Unleashing the cancer genomics cloud |
poster |
Dmitrieva, J. |
Enrichment of IBD fine mapping variants in Hi-C regions |
poster |
Dong, X. |
BRAINCODE—How does the human genome function in specific brain neurons? |
poster |
Dordel, J. |
Towards a high resolution understanding of the evolutionary forces shaping the population structure of common chimpanzees |
poster |
Dukler, N. |
Analyzing the interplay between enhancers and coding elements in the transcriptional response to celastrol |
poster |
Elansary, M. |
Identifying biological correlates of the underlying liability for common complex diseases—Towards novel biomarker systems for inflammatory bowel disease |
poster |
Elde, N. |
The generosity of selfish genes in the evolution of immune defenses |
talk |
Elvers, I. |
Dissecting the influence of genomic background in tumor mutations |
talk |
Engelhardt, B. |
Effects of trans-eQTLs across many human tissues |
poster |
Erlich, Y. |
DNA.Land—A community-wide platform to collect genomes and phenomes of millions of people |
poster |
Ettwiller, L.M. |
Spurious mutation due to DNA damage is pervasive and confounds accurate detection of low frequency mutations in human genome |
poster |
Fagny, M. |
A network-based approach to eQTL interpretation and SNP functional characterization |
poster |
Fairley, S. |
The International Genome Sample Resource (IGSR)—Supporting and building on the 1000 Genomes Project data |
poster |
Fakhro, K. |
Implementing a population-centric reference genome to facilitate precision medicine in Qatar and the Middle East |
poster |
Fang, H. |
Scikit-ribo—Accurate A-site prediction and robust modeling of translation control from Riboseq and RNAseq data |
poster |
Farrell, A.R. |
RUFUS—Accurate and sensitive reference free variant detection |
poster |
Farrell, C. |
NCBI’s vertebrate RefSeq project—Accessibility, curation and collaboration |
poster |
Fereydouni, B. |
Gel-free reduced representation bisulfite sequencing for single cell DNA methylation profiling |
poster |
Ferreira, P.G. |
Effects of post-mortem interval on gene expression across several tissues |
poster |
Field, Y. |
Detecting 2,000 years of human genetic adaptation |
talk |
Flygare, S. |
The VAAST Variant Prioritizer (VVP)—Rapid, massively scalable whole genome variant prioritization tool and its use to prioritize and analyze the entire contents of dbSNP |
poster |
Foley, J.W. |
Streamlined and sensitive gene-expression profiling of degraded samples with Smart-3SEQ |
poster |
Gaffney, D. |
Mutation and selection during induced pluripotent stem cell reprogramming |
talk |
Gagneur, J. |
Genome-wide generalized additive models |
poster |
Galante, P. |
A genome-wide landscape of retrocopies in primate genomes |
poster |
Gardner, E.J. |
The Mobile Element Locator Tool (MELT)—Population-scale mobile element discovery and biology |
talk |
Garvin, T. |
Recurrent noncoding regulatory mutations in pancreatic ductal adenocarcinoma |
talk |
Genereux, D.p. |
Quantifying the epigenetic flexibility of individual loci across developmental time |
poster |
George, R.D. |
Rare-variant analysis of non-obstructive azoospermia reveals that Sertoli-cell-only syndrome and maturation arrest are genetically distinct |
poster |
Gerstein, M.B. |
An integrative framework for large-scale analysis of recurrent variants in noncoding annotations |
poster |
Gifford, D.K. |
High-throughput mapping of regulatory DNA |
talk |
Glastonbury, C.A. |
Adipose tissue cell-type deconvolution to uncover BMI and cell-type specific regulatory effects |
poster |
Gloss, B. |
Dissecting developmental dynamics with high resolution temporal transcriptomics |
poster |
Goodwin, S. |
Cancer genome assembly and structural variant detection with Bionano optical mapping and Pacific Bioscience long reads |
poster |
Gopalan, S. |
Ancient whole dog genomes show no evidence of population replacement in Neolithic Europe |
poster |
Gravel, S. |
When is selection effective? |
poster |
Graveley, B. |
Comprehensive characterization of RNA elements in the human genome |
poster |
Green, A.G. |
Sequence co-evolution predicts residue-level protein interactions |
poster |
Green, R.E. |
The human microbiome as surveyed using a rapid, culture-free whole genome assembly approach |
poster |
Gronau, I. |
New discoveries regarding introgression into Neandertals and Denisovans |
poster |
Gularte Merida, R. |
No evidence for transgenerational genetic effects in the trascriptome of isogenic derived mouse offspring |
poster |
Gulko, B. |
Combinations of genomic properties that explain selective pressure also predict functional elements |
poster |
Gutenkunst, R.N. |
The correlation across populations of mutation effects on fitness |
poster |
Haller, G.E. |
Massively parallel single nucleotide mutagenesis using reversibly-terminated inosine |
poster |
Han, C. |
Evolution of abdominal pigmentation in Drosophila—A phenotype controlled by a gene regulatory network |
poster |
Hansen, K.D. |
Reconstructing A/B compartments as revealed by Hi-C using long-range correlations in epigenetic data |
poster |
Hansen, K.D. |
The association between histone modification abundance and gene expression across individuals |
poster |
Haradhvala, N.J. |
Mutational strand asymmetries in cancer genomes reveal mechanisms of DNA damage and repair |
poster |
Harris, R. |
Insertion and deletion identification and characterization across a seven species baboon diversity panel |
poster |
Harris, R. |
Large-scale indel discovery in rhesus macaques (Macaca mulatta) |
poster |
Havrilla, J. |
Using the landscape of genetic variation in protein domains to improve functional consequence predictions |
poster |
He, X. |
Identification of CpG deserts in human and mouse genomes |
poster |
Hefferon, T. |
NCBI Structural Variation Hackathon—Developing open-source tools for comparing dbVar data to other datasets |
poster |
Hiller, M. |
Controlling for phylogenetic relatedness improves discovering the genomic basis underlying species’ phenotypic differences |
poster |
Ho, Y. |
Evaluation of molecular subtypes and classifications in breast and skin cancer |
poster |
Hormozdiari, F. |
Discovery of complex inversions and mutational properties underlying the origin of segmental duplications |
poster |
Hormozdiari, F. |
Joint fine mapping of GWAS and eQTL detects target gene and relevant tissue |
poster |
Howell, K.J. |
Using multi-omics data to investigate inflammatory bowel disease in the intestinal epithelium |
talk |
Huang, Y. |
A scalable framework for inferring fitness consequences of noncoding mutations in the human genome |
poster |
Huff, C.D. |
Rare variant case-control association studies with heterogeneous sequencing datasets |
poster |
Hughes, D. |
NRL mediates widespread changes in the epigenomic landscape of mouse photoreceptors |
poster |
Husquin, L. |
Dissecting the impact of population variation in DNA methylation on transcriptional responses to immune activation |
poster |
Hussin, J. |
Platypus has recombination hotspots |
poster |
Ichikawa, K. |
De novo assembly of medaka fish genome using SMRT sequencing and construction of chromosome map using genetic markers |
poster |
Im, H. |
Linking genes to phenotypes using GTEx-trained PrediXcan associations in 40 human tissues and millions of individuals |
poster |
Iotchkova, V. |
Comprehensive fine mapping and functional interpretation of human traits |
talk |
Jaffe, A.E. |
Interrogating the genomic mechanisms of schizophrenia genetic risk in the human brain |
poster |
Jaffe, D.B. |
Direct determination of genome sequences |
poster |
Jensen, J.M. |
Structural diversity, recombination and selection in the 4 Mb HLA region inferred from 100 de novo assembled haplotypes |
poster |
Jia, P. |
Linking roles of de novo mutations and common variants in schizophrenia |
poster |
Jiang, S. |
Single-nucleus transcriptome sequencing of differentiating human myoblasts reveals the extent of fate heterogeneity |
poster |
Jiao, Y. |
Improving maize genome resources using long-read sequencing technologies |
poster |
Jin, Y. |
TEpeaks—A tool for including repetitive sequences in ChIP-seq analysis |
poster |
Jostins, L. |
Identifying substructure in genetic risk sharing between diseases |
talk |
Jun, G. |
Scalable multi-sample variant caller (MultiVAC) with fast and efficient local de novo assembly |
poster |
Jungreis, I. |
Evolutionary dynamics of abundant stop codon readthrough in Anopheles and Drosophila |
poster |
Kadri, N.K. |
Higher male than female recombination rate largely controlled by missense variants in RNF212, MLH3, HFM1, MSH5 and MSH4 in cattle |
poster |
Karczewski, K. |
Breaking the infinite sites model—Widespread mutational recurrence in exome sequence data from over 60,000 individuals |
talk |
Karlsson, E.K. |
Shared genetics of obsessive compulsive disorder in dogs and humans |
talk |
Kasinathan, S. |
Reconstructing the evolutionary history of primate centromeres using single-molecule sequencing |
poster |
Keinan, A. |
Leveraging regulatory and genotype-phenotype data to discover and interpret the function of human regulatory DNA in health and disease |
poster |
Keinath, M.C. |
Characterization of a large vertebrate genome and sex chromosomes using shotgun and laser-capture chromosome sequencing |
poster |
Khramtsova, E.A. |
Assocplots—A python package for static and interactive visualization of multiple-group GWAS results |
poster |
Kim, D. |
A gene-environment interaction between copy number burden and exposure to tobacco smoke associated with total cholesterol |
poster |
Kim, D. |
HISAT-genotype—A practical approach for analyzing human genomes on a personal computer |
poster |
Kim, P. |
Landscape of kinase fusion genes based on kinase domain retention across 13 major cancer types |
poster |
Kim-Hellmuth, S. |
Genetic basis of innate immunity in human monocytes |
talk |
Kitts, P. |
The NCBI Assembly Database—A resource for finding, browsing and downloading genome assembly data |
poster |
Klughammer, J. |
Heading for new shores—High-resolution analysis of DNA methylation in yet unsequenced species |
poster |
Knisbacher, B.A. |
DNA editing of retroelements by APOBECs—A source of genomic sequence diversity and accelerated evolution |
poster |
Ko, A. |
Context-specific eQTLs implicate diet-induced transcriptional control in obesity |
poster |
Konkel, M.K. |
Alu elements in baboons—Rapid expansion and evolutionary insights |
poster |
Krasileva, K. |
Uncovering hidden functional variation in polyploid wheat |
poster |
Krerowicz, S. |
Supported lipid bilayers to turn genomic science into materials science |
poster |
Kuderna, L. |
The origins of chimpanzee diversity |
poster |
Lal, A. |
Regulation of the E. coli RNA polymerase |
poster |
Lan, X. |
Coregulation of tandem duplicate genes slows evolution of subfunctionalization in mammals |
poster |
Lappalainen, T. |
The role of haplotype epistasis in human genetic variation and disease risk |
poster |
Laumer, C.E. |
Preservation of molecular identity during whole genome amplification to enable accurate single-cell mutation inference |
poster |
Layer, R.M. |
GIGGLE—Indexing and search all genomic annotation tracks |
poster |
Lea, A. |
A high-throughput, experimental method for quantifying the effects of enhancer methylation on gene expression |
poster |
Leshkowitz, D. |
Using synthetic mouse spike-in transcripts to evaluate RNA-Seq analysis tools |
poster |
Leslie, S.R. |
Tunable nanoconfinement for single-molecule manipulation, modification, and visualization—Toward next generation genomic analyses |
poster |
Li, J. |
Identifying risk alleles in ARHGEF17 for Intracranial Aneurysms with modest sample size |
poster |
Li, Y. |
RNA splicing is a primary link between genetic variation and disease |
talk |
Li, Z. |
Using BlocBuster to identify multi-SNP association patterns in Alzheimer’s disease cohorts |
poster |
Lin, M. |
The genetic architecture of short stature in the South African San |
poster |
Lincoln, S.E. |
Improving the reproducibility of clinical genetic tests—Challenges and solutions |
poster |
Lindsay, S.J. |
Striking differences in patterns of germline mutation in mice and humans |
talk |
Liu, X. |
Functional annotation guided genotype-phenotype association analyses of whole genome sequence data |
poster |
Lodato, M. |
Somatic mutation in single human neurons tracks developmental and transcriptional history |
poster |
Lopez, M. |
Evaluating the efficiency of purifying selection in African populations with different modes of subsistence |
poster |
Lowe, C.B. |
Detecting copy number variation linked to phenotypic traits and repeated evolution |
poster |
Machado, H.E. |
The critical functions encoded by synonymous sites |
poster |
Maekawa, S. |
Regulation of the transcritome though RNA stability under hypoxia in human colorectal cancer cells |
poster |
Makova, K.D. |
De novo sequenced and assembled gorilla Y chromosome shows strong conservation with human but not chimpanzee |
poster |
Malek, J.A. |
Species genome sequencing of the endangered Spix’s macaw |
talk |
Mardis, E.R. |
Genome-guided design of personalized cancer vaccines |
talk |
Mariman, R. |
Effect of 184 risk variants for inflammatory bowel disease on the gut microbiome in healthy individuals |
poster |
Marks, D.S. |
Effects of mutation inferred from genomic sequences |
poster |
Marques-Bonet, T. |
Comparative study of the three-dimensional genomic structure in humans and primates |
poster |
Massaia, A. |
Birth, expansion and death of a human Y chromosome palindrome |
poster |
McClure, J. |
Darwin's Dogs—Genetic mapping of complex behavioral traits in mixed-breed dogs |
poster |
McMahon, F.J. |
A population-specific reference panel empowers genetic studies of Anabaptists through improved imputation |
poster |
McMullan, M. |
Population genomics of the invasive ‘Ash Dieback’ pathogen Hymenoscyphus fraxineus |
poster |
Meyer, H.V. |
Understanding cardiac structure and function in humans using 4D imaging genetics |
poster |
Meyn, S. |
Parental choices and initial results from a comprehensive search for predictive secondary genomic variants in children undergoing whole genome sequencing |
poster |
Miao, Z. |
ASElux—An ultra fast and accurate allelic reads aligner |
poster |
Miller, C. |
IOBIO Dev Kit—Resources for making genomic, real-time web applications and services |
poster |
Mishmar, D. |
The genomic landscape of evolutionary convergence in amniotes |
poster |
Mitchell, A.A. |
Family and population-based genotype imputation in Finland |
poster |
Mohammadi, P. |
Estimating tolerated genetic variation in gene expression from allelic expression data |
poster |
Molik, D. |
EDGY—Export of data from Galaxy to Yabi, automated workflow transfer to command line tools |
poster |
Mondal, M. |
The genomic analysis of the Andamanese gives a new insight on the spread of humans in Asia |
poster |
Moody, J. |
Human variation in microRNA biogenesis and disease |
poster |
Moorjani, P. |
Variation in the molecular clock of primates |
talk |
Moroz, L.L. |
Single-cell and real-time epitranscriptomics reveals novel mechanisms of cell individuality and memory |
poster |
Morris, D. |
Cognitive analysis of GWAS schizophrenia risk genes that function as epigenetic regulators of gene expression |
poster |
Mostafavi, S. |
A multikernel machine approach for multi-omic analysis in context of Alzheimer’s disease |
poster |
Motai, Y. |
Towards measuring nuclear domains from Hi-C data |
poster |
Mudge, J. |
The discovery of over 100 novel human protein-coding genes based on conservation, next generation transcriptomics and mass spectrometry |
poster |
Munch, K. |
Selective sweeps across twenty millions years of human evolution |
poster |
Musharoff, S. |
Modeling ancestry-dependent phenotypic variance reduces bias and increases power in genetic association studies |
poster |
Nattestad, M. |
Complex rearrangements and oncogene amplifications revealed by single molecule DNA sequencing of a highly rearranged cancer cell line |
poster |
Navarro, F.C. |
Pervasive transcription deconvolution reveals transposable elements activity during the development of the human brain |
poster |
Nellore, A. |
Systematic analysis of large human RNA-seq datasets |
poster |
Nelson, D. |
Identifying the ancestral origin of rare alleles |
poster |
Neubern de Oliveira, P.N. |
Differentially expressed miRNAs in liver tissue related to feed efficiency in Nelore cattle |
poster |
Nolte, A.W. |
Genomic signatures of hybrid speciation in invasive sculpins (Cottus) |
poster |
Noutsos, C. |
Novel small RNAs identified in developing maize seeds |
poster |
Nurtdinov, R. |
Comparative transcriptomics of immune cell reprogramming in human and mouse species |
poster |
Oak, N. |
Defining the microRNA mutational landscape in 1000 Genomes and pediatric acute lymphocytic leukemia datasets |
poster |
O'Donnell-Luria, A. |
Interpreting variant pathogenicity—Lessons from over 60,000 human exomes |
poster |
Oliva, M. |
Identification of sex-biased expression and expression quantitative trait loci (eQTLs) in innate and adaptive immunity |
poster |
Ongen, H. |
Identifying the tissue of action for GWAS variants and assessing tissue specificity of eQTLs in GTEx |
poster |
O'Rawe, J.A. |
Properties of false-negative variant calls in human exome sequencing data |
poster |
Orlando, L. |
Evolutionary genomics of the horse domestication process |
talk |
Osterwalder, M. |
CRISPR deletion screen reveals widespread functional redundancy of mammalian in vivo enhancers |
talk |
Pääbo, S. |
Population genomics of Upper Paleolithic Europe |
talk |
Panousis, N. |
Genetics of gene expression regulation in a case-control study for acute myocardial infarction in a Pakistani population |
poster |
Park, J. |
Effect of BRAF and RAS mutations on alternative polyadenylation in papillary thyroid carcinoma |
poster |
Park, Y. |
Computational discovery of epigenetic mediators in Alzheimer’s disease from imputed methyome-wide association statistics |
poster |
Pedersen, B.S. |
Vcfanno—Fast, flexible annotation of genomic variants |
poster |
Pfeifer, S.P. |
Genomic and functional basis of adaptive change—The selective history of camouflaged deer mouse populations |
poster |
Phan, L. |
dbSNP in the era of next-generation sequencing |
poster |
Phillippy, A. |
Canu—A PacBio and Nanopore assembler for genomes large and small |
poster |
Pinello, L. |
Chromatin state variability—A guide to uncover functional genomic regions and interactions |
poster |
Pipes, L. |
Understanding how alternative splicing relates to primate genome evolution—A cross-primate analysis of changes in isoforms and their abundance |
poster |
Polfus, L.M. |
Coupling genomic sequencing analyses with genome editing to reveal a role for alternative GFI1B splice variants in human hematopoiesis |
talk |
Porubsky, D. |
Genome-wide haplotyping using single-cell sequencing |
poster |
Prabhakar, S. |
Histone acetylome-wide association study of autism spectrum disorder |
poster |
Quitadamo, . |
eQTL analysis of lung adenocarcinoma expression subtypes |
poster |
Rafati, N. |
SMRT sequencing reveals complex structure of the sex determination locus in Atlantic herring |
poster |
Raghupathy, N. |
EMASE—Accurate estimation of allele-specific expression using an EM algorithm |
poster |
Ramachandran, S. |
Transcriptional regulators compete with nucleosomes post-replication |
talk |
Ramakrishnan, S. |
The DOE Systems Biology Knowledgebase (KBase)—Fast and flexible RNA-seq analysis of plants and microbes |
poster |
Rao, S.S. |
Chromatin extrusion explains key features of loop and domain formation in wild-type and engineered genomes |
talk |
Richards, A.L. |
In vitro gene-by-environment interactions are relevant for complex traits |
poster |
Riethman, H.C. |
High throughput single-molecule mapping links subtelomeric variants, long-range haplotypes, and telomere length profiles with specific human telomeres |
poster |
Riyazuddin, F.M. |
Identifying the source of rotavirus virulence using sensitive sequence methods |
poster |
Rodriguez, J. |
GWAS replicability across time and space |
poster |
Rogers, J. |
Papio baboons—A present-day model for ancient hominin genetic introgression |
poster |
Rosenfeld, J.A. |
Development of a high-throughput clinical tumor sequencing workflow |
poster |
Rosewick, N. |
HTLV-1/BLV antisense RNA-dependent cis-perturbation of cancer drivers in leukemic and pre-leukemic clones |
poster |
Rozowsky, Y. |
Development and analysis of the exRNA Atlas reveals highly diverse populations of small-RNAs in human biofluids |
poster |
Ruderfer, D. |
Complex genetic overlap between schizophrenia risk and antipsychotic response |
talk |
Sadler, B.E. |
Positive selection on loci associated with drug and alcohol dependence |
poster |
Salerno, W. |
Rapid anonymized lookups of de novo structural variants for whole-genome trios |
poster |
Sandelin, A. |
The promoter- and enhancer landscape of inflammatory bowel disease |
poster |
Sanders, A. |
Visualizing structural variation at the single cell level to explore human genome heterogeneity |
poster |
Sanjak, J.S. |
Frequency, variance and power—How genetic model and demography impact association studies |
poster |
Sanjana, N.E. |
High-throughput, unbiased CRISPR mutagenesis of the human noncoding genome |
talk |
Saraceno, C. |
Understanding the sea lamprey transcriptome during programmed genome rearrangement |
poster |
Schatz, M.C. |
GenomeScope—Fast genome analysis from unassembled short reads |
poster |
Scherer, S.E. |
Targeted prospective sequencing to identify and incorporate clinically actionable pharmacogenomic variants in electronic health records as a model for precision individualized health care |
poster |
Schierup, M.H. |
A detailed view of complex genomic variation in humans from high-quality de novo genome assemblies of 50 Danish parent-offspring trios |
poster |
Schneider, V.A. |
Off-chromosome—Understanding and accessing variation, updates and uncertainties in the human reference genome |
poster |
Schones, D.E. |
Regulatory variation driven by transposable elements contributes to metabolic disease |
poster |
Scott, A.J. |
The impact of genome structural variation on gene expression in humans |
poster |
Scott, E.C. |
A hot L1 retrotransposon evades somatic repression and initiates human colorectal cancer |
poster |
Sedlazeck, F.J. |
Teaser—Comprehensive read mapper benchmarking in 20 minutes for genomes, transcriptomes, methylomes and metagenomes |
poster |
Segal, E. |
Unraveling principles of gene regulation using thousands of designed regulatory sequences |
talk |
Segurel, L. |
Influence of diet, parasitism and host genetics on the biodiversity of the human gut microbiota in rural populations from Cameroon |
talk |
Sella, G. |
Quantifying selection and demographic effects on quantitative genetic variation—An application to human height |
talk |
Sen, A. |
Role of alternative splicing in recovery from traumatic brain injury |
poster |
Sengupta, D. |
Fast, scalable and accurate differential expression analysis of single cells—Application to mouse brain and circulating tumor cells |
poster |
Sharon, E. |
Genetic variation in MHC proteins is associated with T-cell receptor expression biases |
poster |
Shchur, V. |
Tree consistent PBWT and their application to reconstructing ancestral recombination graphs and population structure inference |
poster |
Shekar, N. |
A reference-agnostic and rapidly queryable NGS read data format allows for flexible analysis at scale |
poster |
Shenoy, S. |
Assessment of the human eQTLscape by standardized re-analysis of over 50 eQTL datasets |
poster |
Shooshtari, P. |
Integrating genetics and epigenetics data to prioritize non-coding risk loci and the genes perturbed in autoimmune diseases |
poster |
Skov, L. |
Detecting introgressed archaic haplotypes in Oceanic population genome sequences |
poster |
Smith, J.J. |
A deep evolutionary perspective on vertebrate genome biology |
poster |
Snyder, M. |
Deciphering the non-coding regulatory landscape in autism spectrum disorders |
talk |
Song, L. |
Rascaf—Genome assembly scaffolding with RNA-seq data |
poster |
Spies, N. |
Read clouds reveal evolution of structural variation in cancer |
poster |
Steyer, B.G. |
Arrayed synthesis of custom single guide RNA libraries for CRISPR-Cas9 gene editing |
poster |
Strattan, J. |
The ENCODE analysis pipelines—Repeatable and shareable analysis tools for ChIP-seq, RNA-seq, DNase-seq, and whole-genome bisulfite experiments |
poster |
Su-Feher, L. |
Neurodevelopmental gene expression profiling in heterozygous Chd8 mice reveals pathways driving macrocephaly and developmental disorders |
poster |
Sugden, L.A. |
A dependence-aware composite framework for identifying and localizing hard selective sweeps, with application to a Southern African population |
poster |
Suzuki, Y. |
A human diploid methylome using SMRT read kinetics data |
poster |
Suzuki, Y. |
Meta-methylome analysis with SMRT sequencing revealed a diversity of DNA methylation motifs in uncultured human gut microbiomes |
poster |
Suzuki, Y. |
Nanopore sequencing for genotyping pathogens of tropical diseases |
poster |
Takeda, H. |
Ectopic expression of retrotransposon-derived PEG11/RTL1 contributes to the callipyge muscular hypertrophy |
poster |
Taylor, M.S. |
The landscape of replication associated mutations in the human and mouse germlines |
poster |
Telis, N. |
Hints of recent polygenic adaptation in Northern Europeans |
poster |
Tewhey, R. |
Direct identification of hundreds of expression-modulating variants using a multiplexed reporter assay |
talk |
Thakur, J.K. |
Comparative ChIP-seq uncovers the molecular architecture of human centromeres |
poster |
Thornton, K.R. |
Polygenic adaptation to optimum shifts |
poster |
Timoshevskiy, V.A. |
Epigenetic, cytogenetic and cellular aspects of programmed DNA elimination in the vertebrate, sea lamprey (Petromyzon marinus) |
poster |
Tizioto, P.C. |
Unraveling gene expression changes in Longissimus muscle of Nelore cattle differing for feed efficiency |
poster |
Tuggle, C.K. |
The porcine blood transcriptomic response to lipopolysaccharide (LPS) is highly similar to that of human |
poster |
Tung, J. |
How social status changes the immune system—Experimental evidence from rhesus macaques |
talk |
Uddin, M. |
De novo germline and nodular heterotopia-associated postzygotic mutations of STXBP1 in an epilepsy patient successfully treated with resective surgery |
poster |
Ulirsch, J.C. |
Systematic functional dissection of common genetic variation affecting transcriptional regulation and human disease |
poster |
Ung, M. |
Integrative analysis of essential gene patterns contributing to cancer drug response |
poster |
Välimäki, N. |
Sequence mining reveals informative and enriched elements in (meta-)genomic data |
poster |
van de Geijn, B.M. |
Leveraging heritability of H3K27ac histone modifications to create better functional annotations |
poster |
Varn, F. |
Systematic pan-cancer analysis of immune infiltration |
poster |
Vezzi, F. |
FindTranslocations—A structural variant calling toolkit |
poster |
Vilhjalmsson, B.J. |
An open source web application for polygenic trait and disease risk prediction |
poster |
Vinson, C.R. |
Methylated cytosines mutate to transcription factor binding sites that drive tetrapod evolution |
poster |
Vinuela, A. |
Rare variants and parent-of-origin effects on whole blood gene expression assessed in large family pedigrees |
poster |
Vitting-Seerup, K. |
The landscape of isoform switches in human cancers |
poster |
Walczak, A. |
Diversity of immune receptor repertoires |
talk |
Wan, X. |
Determining an influenza vaccine strain using genomic sequence |
poster |
Wang, B. |
Network enhancement—A general method to exploit the transitive edges in complex networks |
poster |
Wang, Z. |
SMASH, a fragmentation and sequencing method for genomic copy number analysis |
poster |
Ward, A.N. |
Integrated genomic analysis with IOBIO |
poster |
Wen, J. |
Allelic specific expression analysis of structural variation in human populations |
poster |
Wen, J. |
Apply empirical bayesian elastic net method to microRNA epistasis analysis in colon cancer |
poster |
Whalen, S. |
Enhancer-promoter interactions are encoded by complex genomic signatures on looping chromatin |
poster |
Whitaker, J.W. |
Integrative genomic deconvolution of rheumatoid arthritis GWAS loci into gene and cell type associations |
poster |
Willems, T.F. |
Genome-wide assessment of the contribution of short tandem repeats to de novo variation |
poster |
Winden, E.M. |
Nanofluidic approaches to chromosome synthesis |
poster |
Wong, E. |
Cis and trans mechanisms driving TF binding, chromatin, and gene expression evolution |
poster |
Worley, K.C. |
Improved non-human primate reference genome for the biomedical model rhesus macaque |
poster |
Worley, K.C. |
Sheep reference genome sequence updates—Texel improvements and Rambouillet progress |
poster |
Xiao, C. |
NGS-SWIFT—A cloud-based variant analysis framework using control-accessed sequencing data from dbGaP/SRA |
poster |
Yen, A. |
Integrating long-range interactions in epigenomic comparisons across groups of cell and tissue samples |
poster |
Yeo, G.W. |
Robust transcriptome-wide discovery of RNA binding protein binding sites with enhanced CLIP (eCLIP) and evaluation of impact of natural and disease-causing variants on RNA binding |
poster |
Young, A.I. |
Unbiased estimation of heritability by relatedness disequilibrium regression reveals overestimation of heritability by twin studies |
poster |
Young, J.M. |
A role in programmed DNA deletion for the second domesticated piggyBac transposase TPB1 in Tetrahymena thermophila |
poster |
Yousri, N.A. |
Causal variants in metabolite quantitative trait loci |
poster |
Yu, B. |
Whole genome sequence variants influence multiple amino acids levels |
talk |
Yu, H. |
Widespread interaction-specific network rewiring introduced by coding variants in the human population |
poster |
Yu, Y. |
Insights into the performance of whole-exome sequencing technologies |
poster |
Zaaijer, S. |
Real-time person identification using noisy error-prone DNA sequencing data and incomplete databases. |
poster |
Zacher, B. |
Accurate promoter and enhancer identification in 127 ENCODE and Roadmap Epigenomics cell types and tissues by GenoSTAN |
poster |
Zakas, C. |
The genetic basis of evolutionary transitions in early development |
poster |
Zerbino, D.R. |
Cis-regulatory annotation of genomes in Ensembl |
poster |
Zhang, B. |
Uncovering the transcriptomic and epigenomic landscape of nicotinic receptor genes in human non-neuronal tissues |
poster |
Zhao, J. |
Tissue-specific role of somatic mutations in kinase-substrate phosphorylation network |
poster |
Zhao, X. |
VaLoR—A high-speed validation approach for structural variation using long-read sequencing |
poster |
Zhao, Z. |
Investigating regulatory roles of association variants in three lung cancer subtypes |
poster |
Zhu, C. |
Integrative analysis of multi “omics” data identifies functional Mediators as intervention points for global phenotypes |
poster |
Zhu, J. |
Gene similarity network reveals sub-populations of cells in single-cell RNA-seq data |
poster |