The Biology of Genomes
May 9 - 13, 2017

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

Aburatani, Hiroyuki

Genomic classification of gastric cancer for treatment selection

poster

Abyzov, Alexej

Frequency and properties of mosaic somatic mutations in a normal developing brain

talk

Afik, Shaked D

Predicting gene expression from temporal changes of the regulatory landscape in human dendritic cells

poster

Alipanahi, Babak

Pigmentor—Accurate prediction of multiple pigmentation phenotypes

poster

Ang Houle, Armande

The impact of PRDM9 expression on the genomic and transcriptomic landscape of cancer

poster

Athanasiadis, Georgios

Detecting confounding due to residual population structure in genome-wide association summary statistics

poster

Auton, Adam J

Identifying gene-by-environment interactions improves skin cancer risk prediction

poster

Autry, Robert J

Genome-wide CRISPR/Cas9 knockout screening and poly-genomic interrogation of primary leukemia cells identify novel mechanisms of glucocorticoid resistance in pediatric B-lineage ALL

talk

Avital, Gal

microRNAs execute a bimodular developmental program in three animal phyla

poster

Badsha, Md B

Learning causal gene regulatory networks with Mendelian randomization

poster

Baker, Zachary T

Repeated losses of PRDM9-directed recombination despite the conservation of PRDM9 across vertebrates

talk

Ballester, Benoit

ReMap—An integrative ChIP-seq analysis of regulatory elements

poster

Barbeira, Alvaro N

Integrating molecular mechanisms into GWAS summary results

poster

Baron, Maayan

Exploring tumor evolution in Zebrafish using single-cell RNA-Seq

poster

Barreiro, Luis B

The advent of agriculture shaped innate immune responses to pathogens in humans

poster

Bartom, Elizabeth T

H3K27M and the balance between H3K27me3 and H3K27ac in DIPG cells

talk

Baslan, Timour

Profound genetic heterogeneity in cancer cell line model systems—A single-cell investigation

poster

Batra, Rajbir

Decoding the regulatory role and epiclonal dynamics of DNA methylation in breast cancer using sequencing based profiling of 1664 breast tumours

poster

Baud, Amelie

Genome-wide association study of social genetic effects

poster

Beh, Leslie Y

Synthesis of a eukaryotic chromosome reveals a role for N6-methyladenine in nucleosome organization

poster

Benaglio, Paola

Characterization of regulatory variation impacting cardiac traits in iPSC-derived cardiomyocytes

talk

Ben-David, Eyal

A wolf in sheep’s clothing—A selfish element disguised as a linked pair of developmental genes underlies a genetic incompatibility in C. elegans

talk

Bendesky, Andres

The genetic basis of parental care evolution in Peromyscus mice

talk

Bennett-Baker, Pamela

CRISPR-mediated isolation of specific megabase segments of genomic DNA

poster

Berglund, Emelie

Spatial maps of prostate cancer transcriptomes reveals an unexplored landscape of heterogeneity

talk

Berthelot, Camille

The gene expression consequences of mammalian regulatory evolution

talk

Bherer, Claude

Detecting polygenic adaptation using GWAS data

poster

Blake, Lauren E

A comparative timecourse study of endoderm differentiation in humans and chimpanzees

talk

Blekhman, Ran

Gut microbiota induces species-specific gene regulation across primates

talk

Bolotin, Evgeni

Horizontally transferred genes are often shared between closely related bacterial species

poster

Bonner, Amanda M

Rapid evolution of the Drosophila female meiosis-specific gene matrimony

poster

Bose, Aritra

COGG (Correlation optimization of genetics and geodemographics) reveals sociolinguistic stratification in Indian subcontinent

poster

Boyle, Evan A

Evidence for the participation of most transcribed genes in complex trait gene networks

poster

Brandt, Margot K

Characterizing causal cis-regulatory variants using computational approaches and CRISPR/Cas9 genome editing

poster

Breschi, Alessandra

The molecular basis of the cellular taxonomy of the human body

poster

Brown, Andrew A

Rare variants and parent-of-origin effects on whole blood gene expression assessed in large family pedigrees

poster

Brown, Christopher D

Epigenetic fine-mapping of cardiovascular disease loci in the liver

poster

Buchumenski, Ilana

Dynamic hyper editing underlines temperature adaptation in Drosophila

poster

Buck, Gregory

The microbiome of the female reproductive tract and pregnancy

poster

Buxton, Katherine E

Elucidating centromeric protein-DNA interactions via hybridization capture and mass spectrometry

poster

Byrne, Alicia B

The genomic autopsy—Using whole exome and whole genome sequencing to solve complex fetal and neonatal presentations

talk

Cain, Scott

JBrowse and AWS S3—Cheap and easy genome browsing

poster

Camp, Gray

Dissecting human and chimpanzee cerebral organoids using single-cell RNA-seq

poster

Campbell, C. Ryan

Direct estimation of germline mutation rate in mouse lemurs, genus Microcebus

poster

Campbell, Tom

FGFR2 risk SNPs confer breast cancer risk by augmenting estrogen responsiveness

poster

Cao, Han

Next-generation mapping—Application to clinically relevant structural variation analysis

poster

Carelli, Francesco N

Evolutionary turnover of regulatory elements activity in mammals

poster

Carninci, Piero

FANTOM6 reveals broad functional properties of long non-coding RNAs

poster

Castel, Stephane E

Epistasis within genes shapes human genetic variation and disease risk

poster

Cechova, Monika

Heterochromatin turnover among great apes—Species and gender differences

poster

Cesar, Jonatas E

The burden of selection at HLA genes over their genomic neighborhood

poster

Chan, Ernest R

Unexpected distribution of glucose-6-phosphate dehydrogenase deficiency haplotypes in an admixed Malagasy population

poster

Chan, Esther T

Integrated metadata-driven access of ENCODE, modENCODE, REMC, GGR and modERN data through a common portal

poster

Chang, Howard

Chromatin accessibility profiles in genetically identical twins divergent for disease reveals asthma-associated DNA elements

talk

Chapman, Lesley M

Machine learning strategies to identify high confidence structural variants in human genome reference materials

poster

Charlier, Carole

Evidence from the bovine of major differences between individuals in the rate of de novo single nucleotide mutation and transposon mobilization in the germ-line

talk

Chen, Jenny

Evolution of gene expression and regulation across the mammalian lineage

talk

Cheng, Hans H

Characterization of Marek’s disease tumors for driver mutations in chicken, and implications on widespread vaccination against oncogenic viruses and viral evolution

poster

Chiang, Colby

Population-scale SV detection and characterization using svtools

poster

Chuang, Nelson

Comprehensive long range sequencing of full length long interspersed element-1 in diverse human populations

poster

Church, Deanna

Single cell transcriptomics for characterization of complex systems and biomarker detection

poster

Cleary, Brian

Composite measurements and molecular compressed sensing for highly efficient transcriptomics.

poster

Cleary, Brian

Pooled CRISPR activator screens for cellular reprogramming cocktails based on global models of chromatin regulation across 98 cell types

talk

Coolon, Joseph D

Evolutionary dynamics of regulatory changes underlying gene expression divergence among Saccharomyces species

poster

Corominas, Montserrat

The landscape of regulatory chromatin controlling regeneration

poster

Cotney, Justin

High resolution epigenomic atlas of early human craniofacial development

poster

Craig, Sarah

Functional data analysis indicates that the oral microbiome is predictive of child weight gain

poster

Curtis, Christina

Genetic diversity in multi-region sequencing data reflects the mode and tempo of tumor evolution

talk

Dao Duc, Khanh

Probabilistic modeling and inference of the translation dynamics using ribosome profiling data

poster

Dapper, Amy L

The effects of demographic history on the detection of recombination hotspots

poster

Darby, Charlotte

Identification and analysis of somatic variants using linked read sequencing

poster

Davenport, Emily R

Modeling human gut microbiome community structure across healthy and diseased states in 2,500 twins

talk

Davenport, Emma E

Identification of drug eQTL interactions from repeat transcriptional and environmental measurements in a lupus clinical trial

poster

Davila Velderrain, Jose

Systematic genome-wide analysis of localized human chromatin state plasticity

poster

Davis, Jessica E

Decoding the architecture of human cis-regulatory elements

poster

Delaneau, Olivier

Local regulatory networks across two tissues and applications to analyze rare non-coding variants

poster

Di Sera, Tonya L

gene.iobio—A web-based visualization tool for real-time variant analysis

poster

Dickel, Diane E

Ultraconserved enhancers are required for normal development

talk

Dobin, Alexander

Mapping to personal genomes with STAR-Diploid

poster

Donnard, Elisa

Transcriptional control and chromatin landscape of downregulated genes in innate immune cells

poster

Donnelly, Peter J

DNA sequencing of single sperm using a novel approach for whole genome amplification provides critical insights into meiosis and recombination

talk

Doran, Anthony

Multiple mouse reference genomes defines subspecies specific haplotypes and novel coding sequences

poster

Drogemoller, Britt I

The use of predicted gene expression profiles to uncover pathways involved in drug-induced pancreatitis

poster

Dukler, Noah

Nascent RNA sequencing reveals a dynamic global transcriptional response at genes and enhancers to the natural medicinal compound celastrol

poster

Enard, David P

RNA viruses drove adaptive introgressions between Neanderthals and European modern humans

poster

Engel, Krysta L

Rapid in vitro evaluation of variants of uncertain significance from patients with developmental delay and/or intellectual disability

poster

Engelhardt, Barbara

Intersecting pathology images and gene expression data to understand drivers of complex phenotypes

talk

Erlich, Yaniv

Population-scale collection of genomes, genealogy, and phenotypes using single lab resources

poster

Eser, Umut

FIDDLE—An integrative deep learning framework for functional genomic data inference

poster

Fairley, Susan

Extending and updating the 1000 Genomes Project data in the International Genome Sample Resource (IGSR)

poster

Fang, Han

Scikit-ribo reveals precise codon-level translational control by dissecting ribosome pausing and codon elongation

poster

Farrell, Andrew R

K-mer based reference-free detection of family-private variants highlights the genetic complexity of HHT

poster

Farrell, Catherine

Introducing RefSeq Functional Elements—A new dataset annotated by NCBI

poster

Ferris, Elliott C

Genomic patterns of accelerated evolution reveal noncoding elements that may regulate overt and biomedically relevant species-specific traits

poster

Fischer, Jonathan R

The effect of decay factor knockouts on yeast mRNA synthesis

poster

Fort, Alexandre

Effects of genetic variation on promoter usage (pmQTL) and enhancer activity (enQTL)

poster

Fu, Jingyuan

Systems human genome and metagenome analysis on circulating proteins in a population cohort

poster

Fujito, Naoko T

Adaptive evolution of mental activity-related STX gene in the out-of-Africa migration

poster

Fungtammasan, Arkarachai

Assessment of k-mer filtering method for FALCON genome assembly

poster

Fusi, Nicolo

Predicting off-target effects for end-to-end CRISPR guide design

poster

Galante, Pedro

Retrocopies contribution to the cancer genes repertory

poster

Garcia, Julia T

An inducible long noncoding RNA amplifies DNA damage signaling

poster

Garcia, Raquel

Recent evolution of the epigenetic regulatory landscape in human and other primates

poster

Gardner, Eugene J

Analysis of mobile element insertion (MEI) discovery in the genus Canis provides insights on MEI distribution, evolution, and impact on transcription and disease

poster

Gellatly, Kyle

Dissection of cellular heterogeneity in an innate immune model of transcriptional regulation using single cell RNA sequencing

poster

Genovese, Giulio

Inherited genetic variation at many loci shapes somatic genome evolution and clonal expansions in apparently healthy people

talk

Ghosh, Sulagna

Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations

poster

Gifford, Casey

Oligogenic inheritance of familial cardiac disease involving MKL2, MYH7 and NKX2-5 variants

poster

Glodzik, Dominik

Detecting mutational signatures associated with BRCA1/2 deficiency from DNA and RNA sequencing data

poster

Gnirke, Andreas

RRBS-SMART—A method for studying the methylome and transcriptome of low-input tissue samples and single cells at once

poster

Goeke, Jonathan

A pan cancer analysis of promoter activity highlights the regulatory role of alternative transcription start sites and their association with noncoding mutations

talk

Green, Richard

Genome analysis of an F1 hybrid chimpanzee-bonobo hybrid

poster

Greenside, Peyton

Deep learning the combinatorial cis-regulatory code of chromatin dynamics in hematopoietic differentiation

poster

Gregg, Christopher

Diverse non-genetic allele specific expression effects shape genetic architecture at the cellular level in the mammalian brain

poster

Grigaityte, Kristina

Comprehensive sequencing analysis of high-throughput single T cells in humans—αβ chain pairing and allelic inclusion

poster

Guan, Li

Sex-interacting eQTLs in human skeletal muscle

poster

Gudmundsson, Sanna

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness (KID) syndrome by second-site mutations in connexin 26

poster

Gudys, Adam

Robust mapping of whole genome sequencing data

poster

Guiblet, Wilfried Marie

Polymerization kinetics deciphered using PacBio sequencing—Non-B DNA affects polymerase progression and error rate

poster

Gulko, Brad

Fitcons2—Interpretable characterization of the epigenomic profiles from hominin selective pressure

poster

Gutteridge, Alex

Molecular and functional variation in iPSC-derived sensory neurons

talk

Gymrek, Melissa A

A framework to interpret short tandem repeat variations in humans

poster

Hardigan, Drew A

Targeted removal of unwanted sequences from small RNA sequencing libraries

poster

Hardison, Ross

ValIdated Systematic IntegratiON—A vision for epigenomics in hematopoietic gene regulation

poster

Harpak, Arbel

Non-allelic gene conversion is ten times faster than the rate of point mutations in humans

poster

Harris, Alan

The catalog of rhesus variation and development of biomedical models of human diseases

poster

Harris, Kelley

Rapid evolution of the human mutation spectrum

talk

He, Yupeng

Dynamic methylome landscapes during mouse embryonic development

poster

Hernandez, Edgar J

Ultra-fast sequence classification with Taxonomer—A case study of Staphylococcus aureus

poster

Herrero, Javier

Single-cell analysis of clonal dynamics of childhood ALL reveals a role for transcriptional heterogeneity in driving resistance to chemotherapy

poster

Hilton, Jason A

Collecting Roadmap and ENCODE data into reference epigenomes

poster

Ho, Josephine

Investigating the regulatory relationships between transcription factors and their targets in Saccharomyces cerevisiae using RNA-seq

poster

Hogstrom, Larson

Assembly-based characterization of longitudinal metagenomic samples

poster

Hong, Eurie L

The identification of recent fine-scale population structure and impact on genome-wide association studies

poster

Horvath, Julie

Integrative biobanking to investigate genetics, metagenomics, and social behavior in Cayo Santiago rhesus macaques

poster

Howe, Kerstin

Is your assembly good enough? Evaluating and improving reference genome assemblies with gEVAL

poster

Hu, Zheng

A model-based approach for population genomic inference of tumor growth dynamics

poster

Huang, Bernice

Whole metagenomic shotgun sequencing analysis of antibiotic resistance genes in women with symptomatic bacterial vaginosis

poster

Huang, Xiaomeng

Tracking subclonal metastatic expansion in triple negative breast cancer

poster

Huang, Yifei

Estimation of nucleotide- and allele-specific selection coefficients for personal genomics using deep learning and population genetics

talk

Hussin, Julie

Diet networks for personal genomics—A deep learning approach

poster

Imielinski, Marcin

Noncoding indel hotspots target lineage-defining genes in human cancer

poster

Jaederkvist Fegraeus, Kim

Using the unique breeding history of Coldblooded trotters to identify genes that influence athletic performance

poster

Jaffe, Andrew E

Genetic regulation of the human cortex transcriptome in schizophrenia

poster

Jagadeesh, Karthik A

Revealing the causative variant in Mendelian patient genomes without revealing patient genomes

poster

Jiang, Shan

Transcriptome and open chromatin profiling of embryonic stem cells differentiation to definitive endoderm in multiple mammalian species

poster

Kapusta, Aurelie

Ultrafast metagenomics at the bench and in the clinic

talk

Kashima, Yukie

Single cell RNA-sequencing of cell line with chromium and other platforms

poster

Khramtsova, Ekaterina A

Sex-stratified analysis of obsessive-compulsive disorder reveals minor differences in genetic architecture

poster

Khurana, Ekta

Integration of genetic and epigenetic alterations with tissue-specific network reveals regulatory drivers of prostate cancer

poster

Kiblawi, Sid H

Augmenting subnetwork inference with information extracted from the scientific literature

poster

Kim, Charissa

Adaptive resistance to chemotherapy in triple-negative breast cancer revealed by single cell DNA and RNA sequencing

talk

Kim, Seok-Won

Curated genomic-based 16S ribosomal RNA database and platform for seamless updating

poster

Klein, Cecilia

Spatial and temporal transcriptional landscape during fly development

poster

Koh, Sung Cheol

Complete genome sequence of Paenibacillusyonginensis, a novel plant symbiont that promotes growth via induced systemic resistance in Panax ginseng Meyer and Oryza sativa Japonica under salinity stress

poster

Koh, Sung Cheol

Metagenomic insight of relationships between carbon and nitrogen metabolisms in a tannery wastewater treatment plant bioaugmented with the microbial consortium BMS-1

poster

Konkel, Miriam K

Population and phylogenetics of baboons through the lens of the Alu mobilome

poster

Kousathanas, Athanasios

The distribution of fitness effects of new mutations in coding and non-coding DNA in human populations

poster

Kovaka, Samuel

Improving StringTie transcriptome assembly using super-reads

poster

Kreimer, Anat

Leveraging massive parallel reporter assays for functional regulatory elements prediction

poster

Kucukural, Alper

DEBrowser—Interactive differential expression analysis tool

poster

Kuhlwilm, Martin

Novel evidence of complex patterns of gene flow in chimpanzees and bonobos

poster

Kumar, Sushant

Passenger mutations in >2500 cancer genomes—Overall burdening and selective effects

poster

 Kumar, Vijay           Elucidating complex genomic regions through de novo assembly of 10x Linked-Reads

poster

Kumar, Vivek

Scalable, extensible and modular RNA-seq expression profiling using the open-science KBase cyberinfrastructure

poster

Kumaran, Mahalakshmi

Germline copy number variations associated with breast cancer susceptibility and the role of embedded miRNA genes

poster

Kundaje, Anshul B

Deep learning approaches to denoise, impute, integrate and decode functional genomic data

talk

Lage, Kasper

Expanding discovery from cancer genomes by integrating network analyses with massively parallel in vivo tumorigenesis assays

talk

Lamaze, Fabien

Transcriptional profiles are accurate predictors of pan-cancers

poster

Lappalainen, Tuuli

Quantifying genetic regulatory variation affecting each gene in human populations

poster

Lassance, Jean-Marc

Evolution of the olfactory genome in wild rodents.

poster

Layer, Ryan M

STIX—A population-scale structural variant index for rapid allele frequency interrogation

poster

Lea, Amanda

Genome-wide quantification and prediction of DNA methylation-dependent regulatory activity

poster

Lee, Arthur S

The complement control protein CSMD1 is a broad regulator of adult development and fertility in both sexes

poster

Lee, Dillon H

A graph remapping framework for in silico adjudication of SNVs, indels, and structural genetic variants from genetic sequencing data

poster

Lee, Su-In

A novel machine learning framework for integrating multiple data sources to identify robust biomarkers for 160 anti-cancer drugs in leukemia

poster

Leffler, Ellen M

Resistance to malaria through structural variation of red blood cell invasion receptors

talk

Leppala, Kalle

A study on admixture graph fitting

poster

Levene, Stephen

Circulomics—Comprehensive determination of the circular component of eukaryotic genomes

poster

Li, Dawei

A novel approach to detect virome-wide integrations in human cancer genome using whole-genome sequencing

poster

Lincoln, Stephen E

Technically challenging but medically import sequence and copy-number variants in 80,000 patients—Implications for laboratory technologies and validation

poster

Liu, Dajiang

Experimentally validated computational methods to infer XCI escape landscape in population scale RNA-seq data

poster

Liu, Dianbo

Faster growth with shorter antigens explains a VSG hierarchy during African trypanosome infections—A feint attack by parasites

poster

Liu, Tzu-Yu

Translational dynamics revealed by ribosome occupancy and time-resolved proteomics during chemotherapeutic response

poster

Lloyd-Price, Jason

Niche-association and retention dynamics in the human microbiome

poster

Lu, Jennifer

Improving draft genomes of human pathogens for use in metagenomic studies

poster

Luca, Francesca

Gene-environment interactions, gene expression and splicing in 250 cellular environments

poster

Lucotte, Elise

Investigating intragenomic conflicts in the Ampliconic genes in human populations

poster

Luo, Ruibang

LRSim—A linked reads simulator generating insights for better genome partitioning

poster

Machado, Heather E

Parallel seasonal selection across Drosophila melanogaster populations

poster

Maekawa, Sho

Contribution of RNA decay in mediating changes in the transcriptome in cellular stress

poster

Magris, Gabriele

Characterisation of the pan-genome of Vitis vinifera using next generation sequencing

poster

Malladi, Venkat S

Exploring lineage-specific enhancers by integrating enhancer transcription, epigenomic features, sequence motifs, and transcription factor expression

poster

Mariotti, Marco

Treedex, the tree data explorer—Interactive framework for visualization and analysis of comparative omics

poster

Martin, Alicia R

Demographic history impacts polygenic risk across diverse populations

poster

Martinez Fundichely, Alexander

Identifying cancer coding and non-coding drivers involved in somatic structural variations

poster

McCarthy, Davis J

Using single-cell RNA-seq for assessing the effect of common genetic variants on differentiating human iPSCs

poster

McLoone, Brian

Stochasticity promotes the evolution of cooperation in a multilevel model of the snowdrift game, with applications to understanding collective defense in Mycobacterium tuberculosis

poster

Mehta, Tarang K

Evolution of tissue-specific regulatory programs in cichlids

talk

Mejia Guerra, Maria K

Machine learning approaches to model regulatory architectures

poster

Meyer, Matthias

Neandertal and Denisovan DNA sequences from Pleistocene sediment

poster

Miao, Zong

EGAlux—An ultra-fast and accurate allelic reads counter for DNA sequencing

poster

Middelkamp, Sjors

Molecular dissection of complex germline structural variation using a multi-omics approach

talk

Miller, Chase A

IOBIO Dev Kit—Resources for making genomic, real-time web applications and services

poster

Mishra, Tejaswini

Integrative analysis of multi-omics data for personalized disease prediction

poster

Montague, Michael

Loss-of-function gene variants in neuromodulatory pathways among a population of free-ranging rhesus macaques

poster

Moreira, Sandrine

Gene encryption in the mitochondrial genome of diplonemids

talk

Moroz, Leonid L

Brain-seq or how to sequence the entire brain at single neuron resolution—Toward deciphering the genealogy of neurons using scRNA-Seq, ncRNAs and RNA modifications

poster

Mostafavi, Hakhamanesh

Identifying genetic variants that affect viability in large cohorts

talk

Mudge, Jonathan

Expanding and improving GENCODE gene annotation to aid human clinical genetics

poster

Mukhopadhyay, Swagatam

Nuanced empirical modeling of observed transcriptional variance using ultra-efficient 3’-biased RNAseq data

poster

Murad, Rabi

Comparative dynamics of microRNAs during mouse and human prenatal development

poster

Murphy, David A

Background selection is the dominant mode of linked selection in humans

talk

Murray, Gemma G

Passenger pigeon genomes reveal the cost of natural selection for a large population

poster

Nagaraja, Ramaiah

Characterization of chromosome 21 rDNA repeat sequence and variation via TAR cloning and long-read sequencing 

poster

Narisu, Narisu

Whole genome sequencing of 175 Mongolians uncovers population-specific genetic architecture and provides an insight into dispersal of East Asians

poster

Nash, Alexander J

Genome-wide characterisation of high-turnover regulatory regions

poster

Nasser, Waleed

Large disease cohort harmonization with whole-genome replicates reveals sequencing platform heterogeneity across variant spectrum

poster

Navarro, Fabio CP

Autonomous and pervasive transcription decoupling reveal transcriptional activity of LINE-1 elements in somatic tissue and their impact in human tumors

poster

Navin, Nicholas E

Multiclonal invasion  in DCIS identified by topographic single-cell DNA sequencing

poster

Nguyen, Tan-Hoang

Integrated analysis of rare variation in schizophrenia and other neurodevelopmental disorders

poster

Nielsen, Jonas B

Genome-wide association analysis of atrial fibrillation identifies two new risk loci and highlights biological pathways and regulatory elements involved in cardiac development

poster

Nishijima, Suguru

Characterization of complete mobile genetic elements identified by long-read sequencing of human gut microbiomes

poster

Nodzak, Conor M

An integrative analysis of Philadelphia-like acute lymphoblastic leukemia

poster

Olender, Tsviya

Phylogeny-based nomenclature for olfactory receptors in diverse vertebrates

poster

Oliva, Meritxell

Cross-tissue protein expression in the Genotype-Tissue Expression (GTEx) collection

poster

Ollila, Hanna M

Fine mapping genome-wide association in narcolepsy defines novel disease mechanisms

poster

Ormond, Louise N

Inferring the extent of background selection using an approximate Bayesian approach

poster

Ouellette, Francis

Open, collaborative, shareable bioinformatics workshop tutorials

poster

Ouellette, Francis

The Cancer Genome Collaboratory

poster

Paabo, Svante

An attempt to study the modern human phenotype

poster

Pai, Athma A

The major determinants of genome-wide mRNA splicing efficiency in flies

poster

Park, Yongjin

Multi-tissue polygenic models for transcriptome-wide association studies

talk

Parts, Leopold

Accurate classification of cells and tissues from high throughput microscopy images using deep learning

talk

Payne, Anthony J

Gene expression as a mediator of type 2 diabetes susceptibility variants

poster

Pedersen, Brent S

Indexcov—Fast whole-genome coverage quality-control using BAM or CRAM indexes

poster

Phadnis, Nitin

Genomics and the origins of species

talk

Phillippy, Adam

Toward the gapless assembly of vertebrate genomes

poster

Pipes, Lenore

The evolution of alternative splicing complexity in primates

poster

Pique-Regi, Roger

Identifying factors and genetic variants underlying GxE interactions with ATAC-seq

poster

Pizzollo, Jason

Understanding susceptibility to epithelial cancers using comparative genomics

poster

Polychronopoulos, Dimitris

Genome-wide prediction of regulatory territories and target genes under long-range transcriptional regulation

poster

Porath, Hagit

Massive A-to-I RNA editing is common across all metazoa

poster

Prigozhin, Daniil M

Heterochromatin modulation by vertebrate-specific HUSH protein complex

poster

Prufer, Kay

A high-coverage genome of a Neandertal from Vindija Cave in Croatia

poster

Qiao, Yi

SeederSeeker—A computational algorithm for reconstructing metastatic expansion at a subclonal level

poster

Racimo, Fernando

Detecting polygenic adaptation in an admixture graph

poster

Ramaker, Ryne

A genome-wide interactome of DNA-associated proteins in the human liver

poster

Ramakrishnan, Srividya

Benchmarking RNA-seq analysis in plant species

poster

Ramdas, Shweta

Transcriptional profiling of aging effects in human trabecular meshwork

poster

Rendeiro, Andre F

Pooled CRISPR screening with single-cell transcriptome readout

poster

Rennie, Sarah

Transcription is tightly coupled to chromatin organisation and is predictive of cell specific interactions

poster

Reyes-Palomares, Armando

Chromatin reorganization events in endothelial cells associated with pulmonary arterial hypertension

poster

Rich, Charlotte S

Regulation of nodulation by a large family of nodule-specific cysteine rich (NCR) peptides in Medicago truncatula

poster

Rodriguez-Martinez, Jose A.

Combinatorial recognition of DNA by bZIP transcription factors

poster

Rosenfeld, Jeffrey A

Full-length sequencing of cancer gene fusions using RNA-capture and kilobase-length reads

poster

Rosenfeld, Jeffrey A

Single-cell RNA sequencing in sperm from fathers of autistic children

poster

Rotival, Maxime

Dissecting the genetic and evolutionary bases of splice site usage in the human immune response

poster

Ruiz Velasco, Mariana

CTCF-mediated intragenic chromatin looping regulates alternative exon usage

poster

Ruiz-Orera, Jorge

De novo gene evolution—Studying the gene transition from non-coding to coding

poster

  Saito, Kan           Analysis of long noncoding RNA and chromatin interactions by chromatin isolation by RNA purification (ChIRP)

poster

Saito, Marie

Evolution of deletion polymorphism of the gene for a cellular metabolizing enzyme glutathione-s-transferase μ1 in humans and chimpanzees

poster

Sasani, Thomas A

Nanopore sequencing reveals concerted evolution in vaccinia virus driven by host-pathogen conflict

poster

Schaefer, Nathan K

Fast, heuristic ARG inference for large data sets

poster

Schatz, Michael C.

Lessons learned from building personalized phased diploid genomes of the EN-TEx samples

poster

Schirmer, Melanie

Temporal dynamics of metatranscription in inflammatory bowel disease

talk

Schmidt, Joshua M

Local adaptation in chimpanzees

poster

Schubert, Olga T

Genome-wide survey of rare mutations influencing protein abundances in yeast

poster

Scott, Alan F

Linked long read sequencing and optical mapping for de novo genome assembly of an endangered species

poster

Sebat, Jonathan L

Paternally inherited noncoding structural variants contribute to autism

poster

Sedlazeck, Fritz J.

Accurate and fast detection of complex and nested structural variations using long read technologies

poster

Segre, Ayellet V

Integrating eQTLs across 44 human tissues with GWAS uncovers new associations and causal genes for complex diseases

poster

Seki, Masahide

Estimation of gene expression and mutation detection by RNA-Seq using nanopore sequencing

poster

Serrano, Myrna

Genomic reconstruction from longitudinal metagenomics datasets during pregnancy

poster

Shafquat, Afrah

Identification of novel disease loci by Bayesian latent variable re-coding of phenotypes in existing GWAS

poster

Shapiro, Maxwell

A computational approach to the mutative effects of AID on EBV latent replication

poster

Sheikh, Shehzad Z

Identification of miR-31 as a molecular stratifier of Crohn’s disease phenotypes

poster

Sherman, Rachel M

Discovery of long novel insertions in African descent populations

poster

Sheth, Ruchi B

Universal 3-nucleotide periodicity drives efficient protein translation through stepped mRNA-rRNA base pairing

poster

Shimizu, Atsushi

iMethyl—An integrative human DNA methylation variation database—Development for multi omics data in 3 types of human blood cells

poster

Shoura, Massa

Circulomics—Ultrasensitive quantification of extrachromosomal circular DNAs

talk

Sinnott-Armstrong, Nasa

An epigenetic switch confers pleiotropic risk for bone mineral density and hyperglycaemia

poster

Sisu, Cristina

Function and specificity shape the pseudogene landscape in 17 mouse strains

poster

Snyder, Michael

The Integrative Human Microbiome Project (iHMP) provides extensive data resources and tools to better understand the interactions of host and microbiome

talk

Snyder-Macker, Noah

Social status effects on gene expression are decoupled from chromatin accessibility after an acute stress

poster

Spealman, Pieter J

Noncanonical uORFs form a conserved class of cis-regulatory elements in yeast with distinct regulatory features

poster

Spies, Noah

Genome-wide reconstruction of complex structural variants using read clouds

poster

Stein, Joshua

High prevalence of coupled R-gene disease resistance systems in 11 species of the Oryzeae tribe

poster

Stoeger, Thomas

Reconstructing genome biology

poster

Stoiber, Marcus H

De novo Identification of DNA modifications enabled by genome-guided nanopore signal processing

poster

Stokowy, Tomasz

RareVariantVis 2—A suite for analysis of rare genomic variants in whole genome sequencing data

poster

Stranger, Barbara

A systematic assessment of the population genetic evidence for selection across brain related phenotypes

poster

Strattan, J Seth

The ENCODE Annotation Pipeline—Cloud to ground for ChIP-seq, RNA-seq, DNase-seq, and whole-genome bisulfite experiments

poster

Sudmant, Peter

Widespread accumulation of 3' UTR mRNA fragments in specific neuronal cell populations of the aging brain

poster

Suzuki, Yoshihiko

De novo metagenome assembly and methylome of the human gut microbiome using SMRT sequencing

poster

Taher, Leila

Uneven contractions and expansions in the human genome

poster

Takahashi, Yusuke

Investigating non-canonical DNA modification in an animal model using single-molecule real-time sequencing

poster

Takayasu, Lena

Circadian oscillations in the human salivary microbiome

poster

Teitz, Levi S

Selection acts to suppress structural polymorphism in human Y chromosome amplicons

poster

Tello-Ruiz, Marcela K

Gramene—Unifying comparative genomics and pathway resources for plant communities

poster

Tiao, Grace

How to analyze 37,607 cancer and normal germline exomes—A Spark-based computational workflow to uncover new cancer predisposition genes

poster

Tilgner, Hagen U

Coordination of alternative RNA processing events in human cell-lines, tissues, neurons and single cells

poster

Timoshevskiy, Vladimir A

Developmentally programmed chromosome elimination in lampreys—Revealing 40 million years of shared ancestry

poster

Treutlein, Barbara

Organogenomics—Reconstructing human organ development using single-cell transcriptomics

talk

Trizzino, Marco

Transposable elements are the primary source of novelty in the primate gene regulation

poster

Tucci, Serena

The genetic history of the Indonesian Pygmies of Flores

poster

Tung, Jenny

Social hierarchies and the determinants of the immune response in wild baboons

poster

Ullrich, Sebastian

Function and regulation of intron retention in the human blood cell linage

poster

Urban, Lara

Using joint phasing of germline and somatic variants for assessing the landscape of regulatory variation in human cancers

poster

Ursu, Oana

Genome-wide CRISPR perturbation of CTCF binding sites at 3D chromatin loops

talk

van de Geijn, Bryce M

Annotations capturing tissue specific transcription factor binding explain a large fraction of disease heritability

poster

Van Doninck, Karine

The genome architecture of bdelloid rotifers—Shaped by their long-term ameiotic evolution or desiccation?

talk

Vangala, Pranitha

Evolution of enhancers regulating the dynamic transcriptional response of innate immune cells

poster

Vangay, Pajau

US immigration westernizes the human gut microbiome

talk

Varadharajan, Srinidhi

Selection on gene duplicates following whole genome duplication—Insights from salmonid genomes

poster

Velinder, Matthew

Rapid phenotype-driven identification of causative genetic variants using iobio tools

poster

Venner, Eric B

Clinical reporting from integrated genomic data on the neptune platform

poster

Verhey, Ted

Characterization of recombination events driving antigenic variation in the Lyme spirochete by next generation sequencing of full-length vlsE variants

poster

Vernot, Benjamin

Single cell transcriptomics in mice with a humanized version of Foxp2

poster

Vinar, Tomas

Base calling and indexing Oxford Nanopore reads

poster

Vinuela, Ana

Genetic variation modulates multiple molecular phenotypes in T2D subjects—A DIRECT study

poster

Vitezic, Morana

The promoter landscape of inflammatory bowel disease (IBD)

poster

Vuckovic, Dragana

Genome wide sequencing reveals new insights into age related hearing loss—Cumulative effects and the role of selection

poster

Wang, Bo

A phylogenetically based comparative transcriptional landscape between maize and sorghum using single-molecule sequencing

poster

Ward, Alistair N

Comprehensive quality control of many samples using iobio

poster

Ware, Doreen

Maize a complex genome insights revealed by single molecule technologies

poster

Waters, Elizabeth

Discovery of variable lymphocyte receptors to cross the human blood-brain barrier

poster

Wen, Jia

A novel scanning model utilized to the prediction of branch point sequence in human pre-mRNA splicing

poster

Wen, Jia

Covariate-aware models for high-order epistasis analysis in yeast

poster

Westra, Harm-Jan

Fine-mapping identifies RA and T1D functional causal variants in DNASE1L3, MEG3, TNFAIP3 and CD28/CTLA4 loci

poster

Wilbe, Maria K

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy

poster

Willer, Cristen

Integration of GWAS and epigenetic features for total iron binding capacity identifies new loci and new hypotheses regarding clinical implications

poster

Williams, Amy

Inferring parental genomes using data from a set of siblings

poster

Wilton, Peter R

A population phylogeny approach to understanding mitochondrial heteroplasmy

talk

Winden, Eamon M

Nanoconfinement based approaches to chromosome synthesis

poster

Wolford, Brooke N

Using genotyped relatives of ungenotyped type 2 diabetes cases as proxy-cases in a cohort based genome wide association study

poster

Won, Hyejung

Genome-wide chromosomal conformation elucidates regulatory relationships in human brain development and disease

poster

Worley, Kim C.

Rambouillet sheep genome and genomic resources

poster

Wrzesinski, Tomasz M

Binding sites within long non-coding RNAs discriminate between RNA- and transcription mediated mechanism

poster

Xu, Yilin

Identification of drug metabolizing enzyme associated to African ancestry

poster

Yadav, Anupama

Global effects of human genetic disorders and human adaption on molecular networks

poster

Yu, Yun W

Metagenomic binning through low density hashing

poster

Yuan, Jinzhou

Dissecting the regional heterogeneity and microenvironment of human glioblastoma using massively parallel single-cell RNA-seq

talk

Zahoor, Muhammad Y

Illustration of novel loci for intellectual disability in consanguineous families through homozygosity mapping

poster

Zajac, Gregory J

Detecting the source of DNA contamination in genotyping arrays

poster

Zalts, Harel

Alternative polyadenylation drives dynamic gene expression throughout embryogenesis

poster

Zarate, Samantha L

CHORUS—A federated database enabling the sharing of genomic data associated with subjects from varied ethnic groups from different Singapore institutions

poster

Zaugg, Judith B

Chromatin profiling reveals strong differences in transcription factor activity across ageing in mesenchymal stem cells

poster

Zeng, Haoyang

Ensemble based prediction of causal regulatory variants

poster

Zerbino, Daniel R

Cis-regulatory annotation of genomes in Ensembl

poster

Zhong, Yizhen

The usage of local ancestry to inform eQTL mapping in African Americans

poster

Zhou, Wei

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

poster

Zhou, Wenyu

Integrative personal omics profiles during periods of weight gain and loss

poster