The Biology of Genomes
May 10 - 14, 2016

You must register for the meeting in order to submit abstracts.
After registering you will be sent a web link for abstract submission by email.

Program information: An electronic version of the program abstract book will be sent three working days prior to the first day of the meeting, and hard copies will be available for collection upon your arrival at Cold Spring Harbor Laboratory. First night and keynote speakers are informed of their session date and time, otherwise program information is only available upon release of the electronic version of the abstract book. The reason we do this is to try and maximize interactions by encouraging participants to stay for the duration of the meeting.

Please check your email for talk length, poster instructions, and how to have your poster printed at CSHL for collection upon arrival. 

ABSTRACT STATUS

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