Presenting Author

Abstract Title

Talk/Poster

Ablorh, A.

Components of breast cancer heritability in a multi-ethnic targeted sequencing study

poster

Aboukhalil, R.

Ginkgo—Uncovering copy-number variations in single-cell sequencing data

poster

Abyzov, A.

Spectrum of somatic variations in healthy skin fibroblasts

poster

Aguet, F.

Benchmarking of splice isoform quantification methods for RNA sequence data

poster

Aguiar, D.C.

A statistical framework for modeling genetic data as haplotype cluster graphs with application to haplotype phasing, association mapping, and whole-genome compression

poster

Aguiar, V.

Expression and eQTL mapping of HLA genes in large-scale RNAseq assays

poster

Akagi, K.

Human papillomavirus induces focal genomic instability and disrupts cancer-causing genes in primary oral cancers

poster

Alfoldi, J.E.

Canine lymphoma and melanoma somatic analysis reveals the power of dog breed structure to inform human disease

poster

Andres, A.M.

Exome data shows that demography and mating behavior shape the accumulation of deleterious alleles in bonobos.

poster

Andrews, S.

Cell surface interactor sequencing (CSI-seq) reveals novel features about invasive cancer cell phenotypes

poster

Antonarakis, S.E.

Single cell allele-specific expression (ASE) in trisomy 21

talk

Asp, M.

Massive spatially resolved in situ gene expression analysis in developing heart tissue sections

poster

Aswad, L.

Genome wide prognostic analysis stratifies breast cancers into three reproducible subclasses determined by novel genetic grading signatures

poster

Avigdor (Erlanger), B.

Metaplastic breast cancer—Genealogy of intertwined tumor subtypes

poster

Avila-Arcos, M.C.

Assessment of whole genome capture methodologies on single- and double-stranded ancient DNA libraries from Caribbean and European archaeological human remains

poster

Aviran, S.

Optimization of RNA secondary structure prediction from chemical mapping data in Arabidopsis

poster

Babb, P.

A first generation spider silk gene catalog from the golden orb-weaver (Nephila clavipes) genome

poster

Baharian, S.

Population structure in African-Americans

talk

Baker, C.L.

Multimer formation explains allelic suppression at PRDM9 hotspots

poster

Barbadilla, A.

Mapping genome selection onto embryo development in Drosophila melanogaster

poster

Barreiro, L.B.

Macrophages from African and European populations respond differently to bacterial infection

poster

Bar-Yaacov, D.

RNA-DNA differences in the mitochondrial 16S rRNA are conserved among vertebrates and affect cell growth

poster

Barzine, M.P.

Integration of independent human RNA-seq and proteomics datasets – a feasibility study

poster

Baslan, T.

Single cell portraits of breast cancer heterogeneity

talk

Batini, C.

Contrasting patterns in the high-resolution variation of uniparental markers in European populations highlight very recent male-specific expansions

poster

Battle, A.

Transcriptome-wide regulatory networks reveal coordinated control of splicing and expression

poster

Batut, P.

Comparative gene expression analysis reveals deep conservation of non-coding transcription in Drosophila

poster

Batzoglou, S.

Read clouds uncover variation in complex regions of the human genome

poster

Batzoglou, S.

Reveel—Large-scale population genotyping using low-coverage sequencing data

poster

Baughman, K.

Genome analysis of the corallivorous starfish Acanthaster planci reveals conservation between echinoderms and chordates

poster

Beck, T.F.

Is Sanger sequencing still a gold standard?

poster

Berthelot, C.

Evolution of gene regulation in 20 mammals

talk

Bertl, J.

A site specific model of the neutral mutation probability for whole-genome cancer data

poster

Blokzijl, F.

Tissue-specific patterns of somatic mutation

poster

Boettiger, A.N.

Super-resolution imaging of chromatin nano-structure reveals tight coupling of epigenetic state and 3D genome organization

talk

Bomblies, K.

Meiotic adaptation to whole genome duplication

talk

Boryn, L.M.

Genome-wide quantitative assessment of enhancer activities in human cells by STARR-seq

poster

Boyko, A.R.

Allelic heterogeneity and epistasis in the genomic architecture of canine body size

poster

Brandt, D.Y.

Genetic differentiation at loci under strong balancing selection—HLA loci in human populations

poster

Bray, N.

Ultrafast accurate RNA-Seq analysis

poster

Breschi, A.

Constraints in gene expression across tissues and species

talk

Brewer, D.

Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue

talk

Brown, A.A.

Discovery of cross tissue and tissue specific eQTL by deconvolving RNA-seq data from a multi-tissue dataset

poster

Brown, S.N.

Building SuperModels—Aa review of emerging computational avatars for precision medicine

poster

Bryc, K.

Inference of individual-level admixture dates

poster

Buil, A.

Evaluation of the genetic regulation across tissues in a twin cohort

poster

Bukowski, R.

Construction of Zea mays haplotype map

poster

Busch, W.

Dissecting quantitative regulation of root growth using systems genetics

poster

Byrnes, A.E.

Multi-sample isoform quantification in GTEx RNA-seq data

poster

Caceres, M.

Large-scale genotyping of polymorphic inversions in the human genome

poster

Cagan, A.

Identification of genetic changes underlying tameness in domestic animals

poster

Cai, N.

The mitochondrial response to stress

talk

Campbell, C.R.

A genomic assessment of population structure and sex-based migration in an endangered non-model primate genus, Microcebus

poster

Cannon, M.V.

Genome-wide epigenetic reprogramming during normal postnatal development of the liver

poster

Cao, H.

Mapping the "dark matter" of genome—Long repeats, complex structural variations and their biological relevance

poster

Carelli, F.

Retrogenes illuminate dynamics of new gene structure and regulatory evolution in mammals

poster

Carlson, J.E.

Identifying regional variation and context dependence of human germline mutation using rare variants

poster

Carmi, S.

The time and place of European gene flow into Ashkenazi Jews

poster

Carninci, P.

Functional screening of lncRNA—Towards the FANTOM6 project

poster

Casale, F.

Joint modelling of multiple traits and variant sets increases power and yields new insights in the genetic architecture of complex traits

poster

Casillas, S.

Global analysis of human polymorphic inversions from the InvFEST database

poster

Charlier, C.

NGS-based reverse genetic screen for embryonic lethal mutations compromising fertility in livestock

poster

Chen, L.

Analysis of rRNA sequences from RNA-Seq data for taxonomic survey of microbial communities

poster

Chen, S.

Development and analytical validation of a Pharmacogenomics Ion AmpliSeq sequencing assay covering 138 variants and CYP2D6 CNV

poster

Cheng, H.H.

Fine mapping of QTL using allele-specific expression SNPs demonstrates that genetic resistance to Marek’s disease is predominantly determined by transcriptional regulation

poster

Chesi, A.

BMD loci underlie developmental determination of ethnic differences in skeletal fragility across populations due to selection pressures

talk

Chesi, A.

The role of GWAS-implicated type 1 and type 2 diabetes loci in the pathogenesis of latent autoimmune diabetes in adults (LADA)

poster

Chiang, C.

Fast and scalable structural variation analysis for large-scale genome sequencing projects

poster

Churchman, S.

Visualizing human transcription at nucleotide resolution using native elongating transcript sequencing

talk

Clark, A.G.

Marsupial-specific genomic imprinting in the opossum, Monodelphis domestica

talk

Clarke, L.E.

The International Genome Sample Resource—Beyond the 1000 Genomes Project

poster

Claussnitzer, M.

Mechanistic basis and causality analysis of single-nucleotide variant underlying the FTO obesity locus reveals new pathway for tissue-mitochondrial thermogenesis regulation in adipocytes

talk

Corominas, M.

Gene expression without canonical chromatin marking in developmentally regulated genes

poster

Cotsapas, C.J.

Immune-mediated disease GWAS risk variants are not consistent with eQTL data

poster

Cusanovich, D.A.

Massively parallel single cell profiling of chromatin accessibility by combinatorial indexing

poster

Cutcutache, I.

Exome-wide sequencing shows low mutation rates and identifies novel mutated genes in seminomas

poster

Czyz, A.K.

The new Illumina Truseq* Exome Kit optimized for less oxidative damage, higher enrichment efficiency and higher uniformity of coverage

poster

D'Antonio, M.

Identification of driver mutations in non-coding regulatory elements in breast cancer

poster

Dapas, M.

Comparative study of gene isoform expression estimates using RNA-Seq, exon-array, and RT-qPCR platforms in glioblastoma multiforme

poster

Datta, J.

Multiresolution nonparametric Bayesian cluster detection and association testing for whole genome sequencing studies with applications in primary immune deficiency study

poster

Davies, R.W.

The evolution of PRDM9 motifs in humans and mice

talk

Davis, B.W.

Post-domestication genomics of canine populations

poster

Davis, J.

Regulatory variation and the genomic context of allele-specific expression

poster

De Gorter, M.K.

Whole genome sequencing of diverse human populations resolves causal regulatory variants

talk

de Groot, T.E.

A 3D tissue culture platform to investigate drug resistance in multiple myeloma

talk

de Jong, S.

Linkage and sequencing in a Brazilian bipolar family with 111 mood disorder cases

poster

De La Vega, F.M.

Genome data aggregation and exchange across distributed genomic data repositories

poster

de Santiago, I.

Baal-ChIP—Allele-specific ChIP-seq analysis from cancer cell lines

poster

Decker, B.

Under the radar—Survival strategies of an ancient clonally transmissible canine tumor

poster

Delaneau, O.

Genetic control of chromatin in a human population

poster

Di Rienzo, A.

Genome-wide association and local ancestry analyses of high-altitude adaptations in Tibetans

talk

Di Sera, T.L.

vcf.iobio—A visually driven variant data inspector and real-time analysis web application

poster

Dickel, D.E.

Large-scale in vivo enhancer deletion with CRISPR/Cas9

talk

Didion, J.P.

Genetic and epigenetic signatures of gene regulation specific to type 2 diabetes-relevant tissues

poster

Dive, C.

The versatility of circulating tumour cells in lung cancer - biomarkers, biology and mouse models

talk

Dobin, A.

Sequencing of full-length RNA transcripts on the Oxford Nanopore platform

poster

Docampo, E.

Prioritizing likely causative genes in GWAS identified risk loci for immune-mediated inflammatory disorders using cell-type specific eQTL information

poster

Doering, D.T.

Insights into the consequences of sequence divergence using high-throughput pooled allele replacements

poster

Dowell, N.L.

The evolution of rattlesnake venom

talk

Druet, T.

Higher male than female recombination rate in cattle is controlled by genetic variants effective in both sexes

poster

Durbin, R.

65,222 whole genome haplotypes from the Haplotype Reference Consortium and efficient algorithms to use them

poster

Durkin, K.W.

Improving proviral integration site detection with high throughput sequencing

poster

Engelhardt, B.

Effects of trans-eQTLs across many human tissues in the context of regulatory networks

poster

Eory, L.

Avianbase—Enabling comparative genome analyses of birds

poster

Excoffier, L.G.

The expansion of human populations out of Africa might have led to the progressive build-up of a recessive mutation load

poster

Fagny, M.

Human epigenomic variation is driven by historical and recent changes in habitat and lifestyle

poster

Farias, F.H.

Targeted high throughput sequencing identifies novel disease candidate genes for systemic lupus erythematosus in Swedish patients

poster

Farrell, A.R.

RUFUS—Reference free variant detection

poster

Fei, S.S.

Patient-specific factors influence somatic variation patterns identified by whole genome sequencing of independent tumors from von Hippel-Lindau disease

poster

Flint, J.

Sparse whole genome sequencing identifies susceptibility loci for major depressive disorder in Han Chinese women

talk

Franca, G.S.

Investigating the influence of the genomic context on expression and evolution of the human miRNAs

poster

Frank, C.L.

HDACi-induced differentiation of myelogenous leukemia results in targeted chromatin accessibility changes

poster

Fraser, A.G.

Natural variation in gene expression and the impact on mutant phenotypes

poster

Fregel, R.

Assessing the genetic impact of the Indian Ocean slave trade—Genomic ancient DNA data from two historical cemeteries in Mauritius

poster

Fu, Q.

An early modern human with a recent Neandertal ancestor

talk

Gaffney, D.

The Human Induced Pluripotent Stem Cell Initiative (HIPSCI)—Multi-omic cellular genetics on hundreds of iPS lines

poster

Gagneur, J.

Negative feedback buffers effects of regulatory variants

poster

Gallego Romero, I.

A panel of induced pluripotent stem cells from chimpanzees—A resource for comparative functional genomics

poster

Gao, C.

Sexual dimorphism in gene co-expression networks

poster

Gardner, E.J.

The Mobile Element Locator Tool (MELT)

poster

Garimella, K.V.

Hypothesis-free detection of genetic novelty arising from de novo mutations and recombination reveals the structural plasticity of the malaria genome

poster

Gerstein, M.B.

BrainSpan atlas of the developing and adult human brain transcriptome

poster

Giacomello, S.

Spatial single-cell transcriptomics reveals gene expression regulation in the development of angiosperm and gymnosperm leaf primordia

poster

Giannopoulou, E.

The role of H3K27 in IFNg-mediated gene expression

poster

Giannuzzi, G.

Human-specific gene evolution and diversity of the chromosome 16p11.2 autism CNV

poster

Gibbs, R.A.

Clan genomics—Rare variants in complex disease revealed from whole exome sequencing

poster

Gibbs, R.A.

The spectrum of human disease mutations in > 5,000 clinical exome sequencing cases

talk

Gifford, D.K.

A DNA code governs chromatin accessibility

talk

Gignoux, C.

Design and implementation of the next generation of genome-wide association studies with the multi-ethnic genotyping array

poster

Giner-Delgado, C.

Evolutionary history and selective pressures acting on human polymorphic inversions

poster

Gitter, D.M.

Privacy and informed consent in an era of computational genomics—A comparative analysis of Iceland and the United States

poster

Glastonbury, C.A.

Utilizing gene expression to uncover genotype-dependent effects of BMI in multiple tissues

poster

Gloeckner, G.

Genome and development evolution in Amoebozoa

poster

Goeke, J.

Distinct classes of endogenous retroviral elements mark the cell populations in human preimplantation embryos

poster

Gokcumen, O.

The evolution and functional impact of human stuctural variants shared with archaic hominin genomes

poster

Goncalves, A.

Inter-individual variation in epigenetic marks between human induced pluripotent stem cell lines

talk

Green, R.E.

A simple and powerful new approach for generating and improving genome assemblies

poster

Gularte Mérida, R.

Identifying signatures of paternal transgenerational genetic effects on mouse transcriptomes

poster

Gurtowski, J.

Error correction and de novo assembly of Oxford Nanopore Sequencing

poster

Hall, B.

A network ensemble of microRNA and gene expression in ovarian cancer

poster

Hallast, P.

Great ape Y chromosome diversity reflects social structure and sex-biased behaviours

poster

Handsaker, B.

Large multiallelic copy number variation in humans

poster

Harbison, S.

Uncovering single nucleotide polymorphisms affecting sleep duration in Drosophila using artificial selection

poster

Hariharan, M.

Transcriptome dynamics during mouse embryonic brain development

poster

Harland, C.

Frequency of mosaicism points towards mutation prone early cleavage cell divisions

talk

Harrow, J.L.

Tissue-specific identification of lncRNAs in mammalian genomes using targeted RACEseq and Capture Seq

poster

Hastie, A.

De novo assembly and structural variation discovery in in human disease and non-disease state genomes using extremely long single-molecule imaging

poster

Havrilla, J.

Using the landscape of genetic variation in protein domains to improve functional consequence predictions

poster

Hayes, B.J.

Genomic prediction from whole genome sequence data in cattle

talk

He, Y.

Dynamic DNA methylation landscape during mouse embryonic brain development

poster

Herrero, J.

Functional analysis of the ETV6/RUNX1 fused gene in ALL

poster

Himmelbach, A.

Chromosome-scale scaffolding of the map-based reference assembly of barley by chromatin interactions

poster

Hinrichs, A.

The Annotation Integrator—A new way to combine data sources underlying the UCSC Genome Browser

poster

Ho, Y.

poster

Hoehe, M.R.

Multiple haplotype-resolved genomes reveal population level gene and protein diplotype patterns.

poster

Hong, E.L.

Tracking data provenance at the ENCODE DCC

poster

Howrigan, D.P.

New insights into schizophrenia risk from a genome-wide study of CNV in 41,321 subjects

talk

Huntley, M.

A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping

talk

Hupalo, D.N.

Population genomics of a global sample of 200 Plasmodium vivax malaria parasites

poster

Iakoucheva, L.

Spatiotemporal expression of alternatively spliced isoforms in the developing human brain

poster

Im, H.

Probing the biological mechanisms of complex trait etiology via genetically predicted endophenotypes

poster

Infante, C.R.

Limb loss and the evolution of appendage enhancers in snake genomes

poster

Irish, J.

Characterizing the complete metagenome, including high GC/AT microbial members

poster

Itoh, K.

Theoretical analysis indicates human genome is not a blueprint but a storage of genes, and human oocytes have an instruction

poster

Iyer, V.R.

Non-coding somatic mutations and regulatory variation in the glioblastoma genome

poster

Jaffe, D.B.

Affordable phased genome reference sequences

poster

Jager, M.

The mutational landscape of human adult stem cells in culture

poster

Jensen, J.M.

Assembly and analysis of 200 complete HLA haplotypes

poster

Jiang, S.

Comparative genomic analysis reveals the evolutionary dynamics of NRSF binding across four mammalian species

poster

Jin, Y.

TEtranscripts—A package for including transposable elements in differential expression analysis of RNA-seq datasets

poster

Kahles, A.

SplAdder—Integrated quantification, visualization and differential analysis of alternative splicing

poster

Kalita, C.

Deciphering functional mechanisms for non-coding genetic variants associated with complex traits

poster

Karczewski, K.

LOFTEE—Improving the discovery of protein-truncating variants in human genes

poster

Kazmar, T.

Genome-wide identification of enhancers at high resolution in Drosophila S2 cells suggests the existence of functional enhancer cores

poster

Kellis, M.

Epigenomics of common, rare, and somatic variants underlying disease and cancer.

poster

Khurana, E.

Computational identification of noncoding cancer drivers from whole-genome sequencing data

poster

Kilpinen, H.

Gene expression variation in human induced pluripotent stem cells

poster

Kim, D.

Centrifuge—Rapid and sensitive classification of metagenomic sequences

poster

Kim, D.

Testing the genomic enrichment of common and rare copy number burden associated with autism

poster

Kim, S.

GRD—Curated genomic-based 16S ribosomal RNA gene database

poster

Kircher, M.

Computational and functional assessment of non-coding mutations in the human genome

poster

Kitts, P.

Genome data at NCBI–easier access, more formats, improved presentation

poster

Knowles, D.A.

Detecting gene-by-environment interactions using allele specific expression

talk

Kober, K.M.

Genetic and clinical predictors of CD4 recovery during suppressive cART—WIHS

poster

Kober, K.M.

Genome-wide signals of positive selection in strongylocentrotid sea urchins

poster

Kölling, N.

Quantitative genetics of gene expression during Drosophila melanogaster development

poster

Korlach, J.

Putting the W’s back into whole-genome, whole-transcriptome & whole-epigenome sequencing

poster

Korn, J.M.

Genetic landscape of preclinical models compared to primary tumors

poster

Kremling, K.

eQTL analysis of maize kernels to discover functional regulatory variation

poster

Krerowicz, S.

Supported lipid bilayers to turn genomic science into materials science

poster

Kropornicka, A.S.

A dynamic framework for metabolic engineering of the branched-chain amino acid biosynthesis pathway in Escherichia coli

poster

Kukurba, K.R.

The X effect—Regulatory variation between the sexes

poster

Kumar, R.D.

A panel of novel statistical tests identifies tumor suppressors and oncogenes from pan-cancer genome sequencing data

poster

Kural, D.

Tumor-normal genome analysis via personalized graph references

poster

Lajoie, J.M.

Variable lymphocyte receptor-based glycoproteomics of the blood-brain barrier

poster

Lam, E.

Towards understanding the genomic architecture of cancer genomes

poster

Lawrie, D.S.

Accelerating Wright-Fisher simulations on the GPU

poster

Layer, R.M.

Exploration of genetic variation and genotypes among millions of genomes

talk

Lea, A.

A flexible mixed effects model framework for differential DNA methylation analysis

poster

Lee, D.H.

A graph-based framework for unified identification of short and structural genetic variants in whole-genome sequencing data

poster

Lee, H.

Developmental enhancers revealed by extensive DNA methylome maps of zebrafish embryos

poster

Lee, W.

A graph genome reference significantly improves variant calling

poster

Leha, A.

Inter-individual variation in cellular imaging data between induced pluripotent stem cell lines from 157 donors

poster

Lemmelä, S.M.

Sciatica in Finnish study populations—Role of low frequency variants

poster

Levin, L.

LEMONS—A tool for the identification of splice junctions in transcripts of vertebrates lacking reference genomes

poster

Li, J.

Characterizing polymorphisms of Factor VIII gene in the 1000 Genomes

poster

Li, J.

Mutation signature and intratumor heterogeneity of esophageal squamous cell carcinoma in a Chinese cohort

poster

Li, R.

Integration of genetic and functional genomics data to uncover chemotherapeutic induced cytotoxicity

poster

Li, Y.

Tracking the effects of human genetic variation through the gene regulatory cascade

poster

Lin, Y.

Comparison of normalization and differential expression analyses using RNA-Seq data from 726 individual Drosophila melanogaster

poster

Lincoln, S.E.

You may have sequenced, but how well did you do?

poster

Liu, D.

Unveiling the genetic and causal relations between nicotine and alcohol dependence via large scale meta-analyses

poster

Liu, Z.

Genome adaptation of industrial yeast tolerance in Saccharomyces cerevisiae against lignocellulosic biomass conversion inhibitors

poster

Lo, D.

High resolution size profiling of plasma DNA—Biology and clinical applications

talk

Lowdon, R.F.

DNA methylation dynamics in pigment cell development

poster

Lowry, D.B.

A genomic view of local adaptation

poster

Lu, F.

Assembling maize inbred CML247—The maize pan-genome takes off

poster

Luca, F.

Systematic identification of GxE determinants of gene expression

poster

Luo, Y.

The brachiopod genome of Lingula anatina provides insight into the evolution of lophotrochozoans and calcium-phosphate-based biomineralization

poster

Lyon, G.J.

Discovery and genetic characterization of new neuropsychiatric syndromes from family-based studies

poster

MacArthur, D.G.

Integrated analysis of protein-coding variation in over 60,000 individuals

poster

MacGilvray, M.E.

Phospho-proteomic analysis of Saccharomyces cerevisiae regulatory mutants reveals novel regulator-target interactions important for NaCl stress response

poster

Maciuca, S.

A compressed suffix array implementation of a population reference graph, with applications to P. falciparum

poster

Maekawa, S.

Analysis of RNA decay factor mediated RNA stability contributions on the RNA abundance

talk

Makarov, V.

Two novel library preparations for somatic mutation detection and hypomethylation profiling of circulating, cell-free DNA

poster

Mariman, R.

Genetic risk variants for IBD shape the gut microbiome in healthy individuals

poster

Marioni, J.

Computational challenges in single-cell biology and applications in mammalian development

talk

Marth, G.T.

IOBIO—Interactive, visually driven, real-time analysis of genomic big data

poster

Martin, H.C.

talk

Mathieson, I.N.

Eight thousand years of natural selection in Europe

poster

McCurdy, S.

Gene expression contains population structure

poster

Mehta, T.K.

Evolution of modulatory regulatory programs in tissue-specific expression of cichlids

poster

Melé, M.

The human transcriptome across tissues and individuals

poster

Meyer, H.V.

Understanding cardiac structure and function in humans using 4D imaging genetics

talk

Miller, C.

gene.iobio—A streamlined, web application for investigating potential, disease-causing variants

poster

Minkoff, B.B.

Rapid phosphoproteomic effects of ABA on wildtype and ABA receptor-deficient Arabidopsis mutants

poster

Mishmar, D.

The secrets of a two-billion-years marriage—Mito-nuclear coevolution affects protein-protein interactions, human health and speciation

poster

Mishra, T.

Integrative personal omics profiling (iPOP) during weight gain and loss

poster

Moffitt, A.

Integrative genomics with exome, transcriptome and whole genome sequencing of human and murine T cell lymphomas reveal novel subtypes associated with clinical outcome

talk

Montgomery, S.B.

Rare non-coding variation in a population isolate from Sardinia

poster

Mostafavi, S.

Deriving the regulatory network controlling the transcriptional response to IFN-I

poster

Motai, Y.

Estimating subnuclear bodies as holes and cavities in the 3D shape of DNA

poster

Moxon, S.

PAREnet—A tool for degradome assisted discovery and visualization of small RNA/target interaction networks

poster

Moyerbrailean, G.A.

Which genetic variants in DNase I sensitive regions are functional?

poster

Mudge, J.

Improvements to GENCODE are transforming the interpretation of variation

poster

Muerdter, F.

Co-factor dependencies of transcriptional enhancers

poster

Munch, K.

Incomplete lineage sorting reveals prevalence of selective sweeps in great ape evolution

poster

Musharoff, S.

Modeling population size changes leads to accurate inference of sex-biased demographic events

poster

Nagaraja, R.

Genome sequencing elucidates Sardinian genetic architecture and augments GWAS findings—The examples of lipids and blood inflammatory markers

poster

Nakaki, R.

Hetero-DGF—A novel algorithm to decompose heterogeneous binding footprints of transcription factors

poster

Nattestad, M.

PacBio long read sequencing and structural analysis of a breast cancer cell line

poster

Navarro, A.

A genome-wide exploration of the antagonistic pleiotropy theory of senescence supports its role in shaping human ageing and disease

poster

Nelson, D.

Exploring population structure through large pedigrees

poster

Nelson, J.

Investigating axolotl regeneration via single cell transcriptomics

poster

Nolte, M.J.

Evolution of gene expression in giant island mice

poster

Nunes, K.

Excess of African ancestry in the MHC region of a rural Brazilian admixed population

poster

O'Connell, J.M.

Quality control and phasing pipelines for thousands of high-coverage WGS samples

poster

Okula, A.

Comparing statistical approaches for biologically binned variants for association analysis of low frequency variants

poster

Ollila, H.M.

Analysis of HLA loci in narcolepsy

poster

Onda, H.

Human disease—Finding the best mouse model

poster

Pacheco, N.L.

Aberrant astrocyte maturation contributes to Rett syndrome pathogenesis

poster

Pai, A.A.

Global shifts in isoform usage in response to infection suggest concerted regulation by transcriptional and RNA processing mechanisms

talk

Park, J.

The identification of genetic markers for extrathyroidal extension in papillary thyroid cancer

poster

Parker, S.C.

Diverse molecular profiling maps of skeletal muscle reveal mechanistic insights about type 2 diabetes

poster

Parts, L.

Multiplex evaluation of programmable CRISPR/Cas9 transcription factors using competitive growth assays in yeast

poster

Parts, L.

Y10k—A powerful yeast mapping population of 10,000 full genome sequenced and densely phenotyped diploid individuals

poster

Paschall, J.

The European Genome-Phenome Archive—A multi-site database service for controlled-access data archiving of individual level -omics data

poster

Patil, A.

Identification of pathogen-specific response pathways in activated immune cells using a systems biology approach

poster

Pendergrass, S.A.

eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for functional variants

poster

Pendergrass, S.A.

Low frequency variant PheWAS analysis for lipid genes

poster

Petukhova, G.

Hotspots of recombination initiation in the mouse genome

talk

Pique-Regi, R.

Single cell gene expression response to glucocorticoids

poster

Ponting, C.P.

Identifying disease-associated genetic variants affecting vitamin D receptor binding—A ChIP-Exo study

talk

Powell, T.R.

Investigating the molecular underpinnings of human hippocampal neurogenesis and the effects of antidepressants

poster

Price, A.L.

Better, faster, stronger—Mixed models and PCA in the year 2015

talk

Puig, M.

Functional impact and evolution of a novel human polymorphic inversion that disrupts a gene and creates a fusion transcript

poster

Qiao, Y.

Real-time monitoring of disease progression by longitudinal analysis of tumor subclone structure in refractory breast cancer patients

poster

Qin, P.

Denisovan ancestry in East Eurasian and Native American populations

poster

Qu, W.

Assessing cell-to-cell DNA methylation variability on individual long reads

poster

Rabionet, R.

Identification of genes involved in functional recovery after stroke through exome sequencing of extreme phenotypes

poster

Raj, A.

Thousands of novel translated open reading frames and dually coded regions accurately inferred using ribosome footprinting data

talk

Rajagopalan, D.

Characterizing subclonal evolution in lymphoma

poster

Ramachandran, S.

Novel probabilistically interpretable methods for identifying and localizing targets of selective sweeps

poster

Ramani, V.

Spatial resolution of RNA structures by proximity ligation

poster

Ramaswami, G.

Genetic mapping uncovers cis-regulatory landscape of RNA editing

poster

Rebolledo-Jaramillo, B.

Maternal age effect and severe germline bottleneck in the inheritance of human mitochondrial DNA

talk

Reddy, A.

Genetic landscape of common variable immune deficiency

poster

Relton, C.L.

Systematic identification of methylation quantitative trait loci across the human lifecourse

poster

Rib, L.

Host Cell Factor 1 binds to gene promoters in the mouse liver chromatin showing diverse transcriptional regulations

poster

Richards, S.

Genome analysis of a phylum—Initial highlights from the I5K Pilot at the Baylor College of Medicine Human Genome Sequencing Center

poster

Richards, S.

The history and weaponry of an existential battle between a gall forming parasite and its plant host as told through the genome sequence of Mayetiola destructor

poster

Ritchie, M.D.

Epistatic gene-based interaction analyses for glaucoma in eMERGE and NEIGHBOR consortia

poster

Robine, N.

Catalog of fusion genes expressed in the Cancer Cell Line Encyclopedia

poster

Rockweiler, N.B.

Epigenomic annotation of genetic variants using the Roadmap EpiGenome Browser

poster

Rodgers-Melnick, E.

Open chromatin reveals the functional portion of the maize genome

talk

Rogers, J.

Whole genome assembly of the gray mouse lemur (Microcebus murinus) genome—Integrating diverse platforms and data types

poster

Roth, F.P.

Identifying pathogenic human variants—Computers versus humanized yeast

poster

Rotival, M.

Linking immune responsive regulatory variation and population adaptation to pathogen pressure

talk

Rozanski, A.

Evolutionary analysis of endogenous retroviruses in primates

poster

Rudolph, K.L.

Using cancer to investigate the interaction between codon usage and tRNA abundance

poster

Rychkova, A.

Improving computational prediction of missense variants pathogenicity for clinically relevant genes

poster

Salerno, W.

Preparing cohorts of whole genomes for community analyses

poster

Salerno, W.

Structural variation among rhesus macaques identified using the Parliament software

poster

Salmén, F.

Spatial transcriptomics—A method for gene expression analysis of multiple regions within whole tissue sections

talk

Santesmases, D.

Selenoprotein extinction in Drosophila occurred concomitantly to genome catastrophes

poster

Schaffner, S.F.

Intra- and interhost evolution of Lassa and Ebola viruses from whole genome sequencing

poster

Schatz, M.C.

De novo assembly and structural variation analysis of rice using PacBio long read sequencing—The return of reference quality genomes

poster

Scherer, S.E.

PGRN-seq v.2—A second-generation capture-sequencing reagent for prospective sequencing of clinically relevant pharmacogenetic loci

poster

Schlessinger, D.

Measuring the rate and heritability of aging in Sardinians using pattern recognition

poster

Schmidt, E.M.

Analysis of large structural variants in 2,200 whole-genome sequenced myocardial infarction cases and controls

poster

Schneider, V.A.

Taking advantage of an evolving human reference genome assembly

poster

Schumer, M.

Selection and assortative mating shape the genomes of hybrid swordtail fish

poster

Sears, R.L.

Comparative analysis of the DNA methylome within included and excluded alternatively spliced exons

poster

Sebat, J.L.

poster

Sedlazeck, F.J.

The impact of highly polymorphic regions on HTS related studies

poster

Shannon, L.M.

Dog diversity is shaped by a Central Asian origin followed by geographical isolation and admixture

poster

Sharp, A.J.

A survey of DNA methylation polymorphism in the human genome identifies environmentally responsive co-regulated networks of epigenetic variation

poster

Shimizu, A.

Intra-individual variation and medium-term methylation-expression association study in monocyte from healthy individual.

poster

Shringarpure, S.S.

Privacy leaks from beacons

poster

Simecek, P.

Missing heritability in diversity outbred mouse population

poster

Singhal, S.

A fine-scale map of recombination rates and hotspots in the zebrafinch genome

talk

Skov, L.

Structural variation on the Y-chromosome in the Danish population

poster

Snyder, M.

Integrative analysis of autism spectrum disorders

poster

Sõber, S.

RNA-seq analysis of placental transcriptional landscape in normal and complicated pregnancies

talk

Song, L.

Lighter and Rcorrector—A suite for next generation sequencing error correction

poster

Soranzo, N.

The interplay of genomes and epigenomes in hematopoietic development and cardiovascular disease

talk

Spalding, D.

The European Variation Archive

poster

Spies, N.

svviz—A read visualizer for structural variants

poster

Steemers, F.

Single tube, whole genome phasing using bead-based index partitioning

poster

Stoler, N.

Non-diploid indel discovery via de novo assembly

poster

Stricker, G.

A statistical model for signal detection and bias correction in ChIP-Seq data

poster

Subramanian, L.

Functional genetic variants in the Chromogranin A gene promoter govern plasma protein levels by differential transcription regulation

poster

Suzuki, Y.

De novo metagenome assembly using PacBio long reads

poster

Suzuki, Y.

Characterizing DNA methylation of living LINE/L1 transposons in human genomes using long SMRT reads

poster

Suzuki, Y.

Nanopore sequencing for genotyping pathogens of tropical diseases

poster

Symer, D.E.

Aberrant pre-mRNA splicing due to mutations in RNU4atac, a minor spliceosomal snRNA, results in severe developmental phenotypes in new mouse models

poster

Symer, D.E.

APOBEC3 mutational signatures are enriched in human papillomavirus-positive oral cancers

poster

Takeda, H.

Multiple lines of transgenic mice shed new light on the molecular mechanisms underlying the callipyge phenomenon

poster

Tam, O.

Uncovering novel microRNAs in developing maize kernels

poster

Taylor, L.

The genetic architecture of metabolic response in skeletal muscle expression

poster

Taylor, T.D.

iCLiKVAL—Interactive community resource for the manual curation of all scientific literature through the power of crowdsourcing

poster

Teixeira, J.C.

Balancing selection in the great apes

poster

Tilgner, H.U.

Comprehensive transcriptome analysis using synthetic long read sequencing reveals molecular co-association and conservation of distant splicing events

poster

Tomaszkiewicz, M.A.

Comparative analysis of the Y chromosome genomes of greater apes

poster

Tomioka, S.

Predicting centromeric higher order repeats in human genomes with PacBio long reads

poster

Tsvid, G.

Nanoconfinement systems for genome analysis

poster

Tukiainen, T.

Population-scale and single-cell RNA sequencing provide insight into the pattern of X chromosome inactivation across human tissues

talk

Ulitsky, I.

Principles of long noncoding RNA evolution derived from direct comparison of transcriptomes in 17 species

poster

Vallejos Meneses, C.A.

BASiCS—Bayesian analysis of single-cell sequencing data

poster

Valouev, A.

Analysis of genetic history of Siberian and Northeastern European populations

poster

Van den Broeke, A.

HTLV-1/BLV antisense-RNA dependent cis-perturbation of cancer drivers in pre-leukemic and leukemic clones

poster

Vezzi, F.

A fully automated computational infrastructure for NGS analysis in the X Ten era

poster

Vignal, A.

Sequencing haploid drones from royal jelly and honey bee populations for detection of differentiation and selective sweeps.

poster

Viñuela, A.

The genetic regulatory landscape of the human pancreatic islet transcriptome

talk

Voight, B.F.

Heptanucleotide sequence context explains substantial variability in nucleotide substitution probabilities across the human genome

poster

Wachsmuth, M.

Correlation of mitochondrial DNA heteroplasmy and copy number in human tissues

poster

Wadelius, C.

The secrets of GWAS are written in the reads

poster

Wagner, F.

GO-PCA—An unsupervised method to explore biological heterogeneity based on gene expression and prior knowledge

poster

Wahlberg, P.

Whole-genome bisulfite sequencing of acute lymphoblastic leukemia cells

poster

Wang, B.

Characterization of maize B73 transcriptome by hybrid sequencing

poster

Wang, M.

Genome-wide crossover distribution in male and female of maize

poster

Wang, T.

Principles of epigenome conservation

poster

Ward, A.N.

Rapid, comprehensive, whole-genome interrogation of medical sequencing data

poster

Ware, D.H.

Gramene—A resource for comparative plant genomics and pathways

poster

Watt, S.

The effect of natural genetic variation on transcription factor binding and enhancer activity in primary blood cells

poster

Webster, M.T.

Extreme recombination rates shape genome variation and evolution in honeybees

poster

Wei, S.

oge.gramene—A comprehensive platform for studying Oryza genome evolution

poster

Willis, J.H.

Genetic analysis of parallel local adaptation to serpentine and mine soils in Mimulus

talk

Winter, D.J.

Population genomic analysis of Plasmodium vivax from Colombia reveal substantial genetic diversity and a selective sweep associated with drug resistance

poster

Wojcik, G.L.

Optimizing trans-ethnic tag SNP selection for genome-wide association studies

poster

Wolford, B.N.

An integrated omics profile of the human beta cell model EndoC-βH1

poster

Worley, K.C.

De novo genome assembly for the 21st century

poster

Worley, K.C.

Improving the reference through long read technology—Better genomes for the sheep and the cow

poster

Wu, S.

Detecting and estimating spontaneous mutation rates in Tetrahymena thermophila

poster

Xi, H.

Systematic cataloging of the human tissue selectome as a foundation for identifying targets of human disease

poster

Xiao, C.

Cloud-based variant analysis solution using control-accessed sequencing data

poster

Yang, H.

Effect of sex, genotype, and environment on gene expression and alternative splicing in individual Drosophila melanogaster

poster

Yang, T.

Modeling reproducibility of high throughput sequencing data with tail dependences when Pearson and Spearman correlations fail

poster

Yu, B.

Low-frequency sequence variants influence the human metabolome

poster

Yue, F.

Dynamic enhancer landscapes during pancreatic differentiation of human ES cells

poster

Yutin, N.

Discovery of novel genetic elements by metagenome mining

poster

Zaugg, J.B.

Genetic control of chromatin states and gene expression in humans involves local and distal chromosomal interactions

poster

Zerbino, D.R.

Annotating non-genic regions in Ensembl

poster

Zhang, B.

Dynamic DNA methylation change of transposable elements in human cancer

poster

Zhang, J.

Genomic, epigenomic, and gene expression analysis reveals the connection between mutational pattern and lineage of B cell lymphomas

poster

Zhang, Y.

Novel IDEAS for detecting epigenetic variation in multiple human cell types

poster