Biology of Genomes
May 8 - 12, 2018

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.
You may copy and paste your abstract from Word, Google Docs, or Notepad; abstracts are limited to ~2900 characters.

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, Alexej

Sensitive detection of low frequency single nucleotide variants from amplicon and capture sequencing data with Leucippus

poster

Afik, Shaked D

Defining the regulatory grammar of human dendritic cells activation

poster

Agarwal, Ipsita

Widespread differences in the mutation spectrum of X and autosomes—Causes and consequences

talk

Albers, Patrick K

Nonparametric estimation of allele age for rare variants in population-scale sequencing data

talk

Al-Thani, Nayra

Open reading frame filtering of Helicobacter pylori genome

poster

Alver, Maris

Recall by genotype and cascade screening for familial hypercholesterolemia in a national biobank from Estonia

poster

An, Lin

Uncovering the hierarchical conformation of topologically associating domains from Hi-C data

poster

Arbeithuber, Barbara

Rare mitochondrial DNA variant analysis in single oocytes using duplex sequencing

poster

Artesi, Maria

Improved high throughput sequencing method to map proviral integration sites and measure clonal abundance

poster

Asalone, Kathryn C

Discovery of the first germline-restricted gene by subtractive transcriptomic analysis in the zebra finch Taeniopygia guttata

poster

Asgari, Samira

A positively selected common missense variant in FBN1 confers a 2.2centimeter reduction of height in the Peruvian population

poster

Ashuach, Tal

MPRAnalyze—A statistical framework for Massively Parallel Reporter Assay (MPRA) data

poster

Avsec, Ziga

Kipoi—Sharing and re-use of predictive models for regulatory genomics

poster

Bae, Taejeong

Discovering somatic mosaic variants with high allele frequency using exhaustive pairwise comparison of single-cell genomes

poster

Baggs, Erin

Aquatic plants have lost a key immune signalling pathway and reveal previously unknown components of immunity

poster

Balliu, Brunilda

Longitudinal study of gene expression and regulation during a critical period of the aging process

poster

Ballouz, Sara

Conservation of transcriptional variation across human, mouse and … armadillo?!

poster

Bao, Jessie YJ

Reprogrammed translation of the insertion sequence IStra in the pathogenic bacterium Streptococcus pyogenes

talk

Baranasic, Damir

DANIO-CODE—A central resource for standardised annotation and re-annotation of whole-genome data for the model vertebrate zebrafish

poster

Barrett, Jeffrey

Using human genetics to give the right patient the right drug—Inflammatory bowel disease as an illustrative example

talk

Batra, Rajbir

Stochastic or deterministic? Decoding the regulatory role and epiclonal dynamics of DNA methylation in 1482 breast tumours

talk

Bell, Avery Davis

28,113 haploid sperm genomes from 18 individuals ascertained by a droplet-based single-sperm sequencing technology

poster

Belleau, Pascal

Genomic and pharmaco-genomic characteristics of pancreatic cancer organoids

poster

Berge, Tone

Proteomic profiling of CD4+ and CD8+ T cells from multiple sclerosis patients and healthy controls

poster

Bhardwaj, Vivek

Quantitative analysis of dosage compensation in Fly brains using transcript 5’ profiling

poster

Bhetariya, Preetida J

Somatic variant calling pipeline for detection of tumor-derived very low frequency variants in cell-free DNA—SomaticTriCaller

poster

Billis, Kostas

Rodents annotation in Ensembl

poster

Boeke, Jef

Writing genomes

talk

Bojorquez-Gomez, Ana

A global transcriptional network connecting noncoding mutations to changes in tumor gene expression

poster

Bomba, Lorenzo

Whole-exome sequencing discoveries of rare genetic variants associated with human blood metabolites

poster

Borsari, Beatrice

Exploring the relationship between expression and chromatin dynamics from a temporal perspective

poster

Bossini-Castillo, Lara

Refined map of gene expression regulation in human CD4 regulatory T cells guides functional fine-mapping of immune disease associated variants

poster

Bowler, Megan J

Bam.iobio—A visual, real-time web-based alignment file inspector adapted for clinician use

poster

Brand, Harrison

An analytical framework for whole genome sequence data and its implications for autism spectrum disorder

poster

Brent, Michael R

The relationship between TF binding and regulation—Rules and exceptions

poster

Breton, Gwenna

High-throughput sequencing data—A proposal of processing pipeline for human population and evolutionary genomics studies

poster

Brown, Andrew A

Fine-mapping regulatory variants across 49 tissues

poster

Brownstein, Catherine

SCN1A variants associated with sudden infant death syndrome

poster

Bryan, John M

Identifying core biological processes distinguishing eye tissues with systems-level gene expression analyses, weighted correlation networks, and single cell RNA-seq

poster

Burke, Emily E

Dissecting transcriptomic signatures of neuronal differentiation and maturation using iPSCs

poster

Calderon, Diego

Characterizing human immune response with implications for understanding autoimmune trait architecture

poster

Caliskan, Minal

Genetic and epigenetic fine mapping of complex trait associated loci in the human liver

talk

Cansdale, Bobbie J

3D-modelling of Hi-C data to investigate the spatial organisation of the canine genome

talk

Carninci, Piero

RADICL-seq—A novel technology for genome-wide mapping of RNA-chromatin interactions

talk

Carroll, Andrew

A comprehensive benchmarking toolkit for sequencing data and analytical tools

poster

Carvunis, Anne-Ruxandra

The genome's reservoir of beneficial proto-genes

talk

Chakraborty, Mahul

Abundant genome structural variation shapes heritable phenotypic variation in Drosophila

poster

Chapman, Lesley M

SVCurator: An app to visualize structural variants for crowdsourcing machine learning labeled data

poster

Chen, Sidi

Towards mapping functional cancer genome atlases

talk

Chhetri, Surya B

An integrative map of hundreds of DNA binding profiles and DNA methylation landscape in a single cell type

poster

Chuang, Jeffrey H

Evolution of an intratumoral ecology susceptible to successive treatment in breast cancer xenografts

poster

Collado Torres, Leonardo

BrainSeq phase II—Schizophrenia-associated expression differences between the hippocampus and the dorsolateral prefrontal cortex

talk

Collins, Mahlon A

Genetic mapping of ubiquitin-proteasome system activity in large yeast populations

poster

Colonna, Vincenza

Genetic diversity and positive selection for fruit shape in a wide collection of Capsicum species.

poster

Cowley, Mark J

Translating cancer genomics to the clinic, for advanced childhood and rare adult cancers

poster

Craig, Sarah J

Harnessing longitudinal data to derive a new genetic risk score for childhood obesity

poster

Cross, Joanna L

Assessing behavior and anxiety in the Dhcr7T93M/Δ3-5 mouse model of Smith-Lemli-Opitz syndrome

poster

Crow, Megan

Characterizing the replicability of cell types defined by single cell RNA-sequencing data using MetaNeighbor

poster

Currant, Hannah

Understanding variation in human retinal morphology using UK Biobank data

poster

Dapas, Matthew

Quantitative trait meta-analysis identifies rare noncoding variants in DENND1A associated with altered hormone levels in PCOS

poster

Dayama, Gargi

Interactions between the gut microbiome and host gene regulation shed light on the pathogenesis of colorectal cancer in cystic fibrosis patients

poster

Dekker, Job

Folding, unfolding and refolding of genomes

talk

Delaneau, Olivier

Intra- and inter-chromosomal chromatin interactions mediate genetic effects on gene expression

poster

Denisko, Danielle

Motif elucidation in ChIP-seq datasets with a knockout control

poster

di Iulio, Julia

Prioritization of deleterious variants in the regulatory genome by modeling 3D chromatin structure, genome essentiality and allelic expression

poster

Di Palma, Federica

The evolutionary dynamics of microRNAs in domestic mammals

poster

Di Sera, Tonya L

Gene.iobio—An interactive tool for real-time variant interrogation and discovery

poster

Diaz, Joey Mark S

Identification and exclusion of problematic regions in the genome assembly of the Leeds Melanoma Cohort CNV data

poster

Djebali, Sarah

Profiling the landscape of transcription, chromatin accessibility and chromosome conformation of cattle, pig, chicken and goat genomes [FAANG pilot project “FR-AgENCODE]

poster

Dobin, Alexander

Understanding gene regulation via integration of multi-omics data in human tissues

poster

Dolgova, Olga

Deep learning coupled with ABC for the inference of Native American evolutionary history

poster

D'Oliveira Albanus, Ricardo

Information theory analysis of ATAC-seq data predicts local chromatin kinetics and reveals novel aspects of gene regulation and genome organization

talk

Dolzhenko, Egor

Detection of pathogenic repeat expansions from high-throughput whole-genome sequence data

poster

Dougherty, Max L

Transcriptional fates of human-specific duplicate genes

poster

Dreszer, Timothy R

Accessing ENCODE project data using a REST API and JSON objects

poster

Dudchenko, Olga

De novo assembly of mammalian genomes with chromosome-length scaffolds, from short reads, for under $1000

talk

Dukler, Noah

Characterizing lineage specific cis-regulatory evolution

poster

Durkin, Keith W

The landscape and evolution of somatic mutations in bovine leukemia virus induced tumors

poster

Ekawade, Aditya

Genepanel.iobio—An interactive web application to generate lists of prioritized genes

poster

Fairley, Susan

Supporting users of the 1000 Genomes Project data and improving data resources in the International Genome Sample Resource (IGSR)

poster

Fan, Shaohua

Ancient African substructure inferred from whole genome sequence data

poster

Farrell, Andrew R

RUFUS—Reference free variant detection improves accuracy and sensitivity

poster

Fijarczyk, Anna

Reconstructing the sequence of events—Introgression and rapid divergence in recently emerged tree pathogens

poster

Findlay, Gregory M

Accurate functional classification of thousands of BRCA1 variants with saturation genome editing

talk

Findley, Anthony S

Genetic and environmental effects on gene regulation in the vascular endothelium

poster

Fitzgerald, Tomas W

The inbred Medaka Kiyosu panel

poster

Freeberg, Mallory

The Human Cell Atlas Data Coordination Platform

poster

Fresard, Laure

Identification of rare-disease genes from RNA-seq of undiagnosed cases using large control cohorts

poster

Gagneur, Julien

Proteogenomic characterization of human tissues reveals mRNA motifs controlling protein abundance

poster

Galante, Pedro

SANDY—A straightforward and streamlined next-generation sequencing read simulator

poster

Gambogi, Craig W

The molecular requirements for epigenetic  establishment of centromeres depend on the underlying DNA

poster

Gardner, Eugene J

Contribution of retrotransposition to developmental disorders

poster

Garrido, Diego

Identification and analysis of splicing quantitative trait loci in GTEx

poster

Garrison, Erik

Variation graphs for efficient unbiased pangenomic sequence interpretation

talk

Gasperini, Molly J

CRISPR-QTL mapping as a genome-wide association framework for cellular genetic screens

talk

Geller, Evan

Big brains—What high-throughput enhancer knockouts reveal about human cortical evolution

poster

Genovese, Giulio

Differential allelic drop-out with parent-of-origin effects due to G-quadruplexes at imprinted loci in whole genome sequence data from PCR libraries

poster

Georges, Stephanie

A web tool for interpreting genomic patient data in the context of large disease cohort datasets

poster

Gerstein, Mark B.

Integrative analysis of allele-specific expression, transcription factor binding, and chromatin state in multiple human tissues.

poster

Gheorghe, Marius

ChIP-eat: from raw ChIP-seq reads to high quality TFBS prediction

poster

Glassberg, Emily

Measurement of genome-wide selective constraint on human gene expression

poster

Glinos, Dafni A

The role of T cell stimulation intensity in the expression of immune disease genes

poster

Godfrey, Alexander K

Expression patterns of Y-chromosome genes across human tissues and individuals

poster

Goren, Alon m

Study of the mitotic chromatin shows involvement of histone modifications in bookmarking and reveals nucleosome deposition patterns

poster

Gou, Liangke (Connie)

The genetic basis of mutation rate variation in yeast

poster

Granka, Julie M

Implications of post-colonial demographic structure on association analyses and their interpretation

poster

Griffiths, Jonathan

Charting the diversification of mammalian cells at whole organism scale

talk

Gulko, Brad

Hominin selective pressure drives cell type sensitive epigenomic segmentations at base pair resolution

poster

Gupta, Meenal

Elucidating the genetic defects underlying radiation hypersensitive phenotypes through whole genome and exome sequencing

poster

Gymrek, Melissa A

A reference haplotype panel for genome-wide imputation of short tandem repeats

poster

Hahaut, Vincent P

Exploring the function of non-coding viral transcripts in bovine leukemia virus induced leukemia

poster

Hajirasouliha, Iman

An alignment and reference free approach to deconvolve linked-reads for metagenomics

poster

Hannibal, Roberta

Mechanistic insight into the bioactivity of a novel bacterial protein for the treatment of inflammatory bowel disease

poster

Hansen, Matthew

Population structure of the human gut microbiome across ethnically diverse sub-Saharan Africans

talk

Hardison, Ross

Systematic integration of epigenomes via IDEAS paints the regulatory landscape of hematopoiesis

poster

Hardwick, Simon A

Transcriptional complexity of non-coding genomic regions associated with brain phenotypes

poster

Harris, Ronald A

Primate intra- and inter-species chromosome 19 variation in the context of the regulatory methylome

poster

Havrilla, James

A map of constrained coding regions in the human genome

poster

Hayward, Laura K

Polygenic adaptation in response to a sudden change in the environment

talk

Hefferon, Tim

dbVar—Toward a human structural variation reference set (alpha release)

poster

Hejase, Hussein

Inference of selective sweeps based on the ancestral recombination graph in rapid avian radiation

poster

Helkkula, Pyry H

Enriched loss-of-function variants in ANGPTL4 and ANGPTL8 associate with lower risks of cardiometabolic diseases

poster

Hill, Andrew J

A first generation atlas of in vivo mammalian chromatin accessibility at single cell resolution

poster

Hoffman, Gabriel

Functional interpretation of genetic variants using deep learning

poster

Huang, Xiaomeng

Reconstruction of subclonal tumor evolution from rapid autopsy data reveals novel patterns of aggressive metastatic colonization

poster

Huang, Zhuoyi

A survey of 220,000 people from all of China demonstrates that complex population genetic processes have shaped Chinese genomes

poster

Hubel, Christopher

Multi-polygenic risk scoring to define anorexia nervosa subtypes

poster

Hutton, Elizabeth

Genotype-fitness mapping in cancer cell lines using CRISPR-Cas9

poster

Im, Hae Kyung

Phenomewide consequences of gene expression variation in humans

poster

Imielinski, Marcin

Signatures of complex structural variation across thousands of cancer whole genomes

talk

Iwabuchi, Sadahiro

New methods for detecting mouse T cell receptor repertoire with single cell gene expression

poster

Jakobsson, Mattias

Sequence-based approaches utilizing complete modern and ancient genomes to investigate early human history

talk

Jiang, Chao

Dynamic human environmental exposome revealed by longitudinal personal monitoring

poster

Juettemann, Thomas

The EMBL-EBI Genome Editing Catalogue

poster

Jungreis, Irwin

A new workflow built on whole-genome PhyloCSF discovers hundreds of human protein-coding genes, exons, and pseudogenes, shedding light on many disease associations

poster

Justice, Monica

Informing human genetic variation and therapeutic entry points through modifier screens in mice

talk

Karaderi, Tugce

Genome-wide meta-analysis of polycystic ovary syndrome in women of European ancestry identifies novel loci

poster

Karczewski, Konrad

The spectrum of loss of function tolerance in the human genome

poster

Karpe, Snehal D

InsectOR—A web-server to identify olfactory receptor genes from insect genomes

poster

Kashima, Yukie

Combinatory use of two scRNA-seq analytical platforms reveals the heterogenous transcriptome response in lung adenocarcinoma cell lines

poster

Kawaji, Hideya

DTH—Directory to Track Hub

poster

Kedzierska, Katarzyna Z

Differential mutation analysis across gene sets in cancers

poster

Kellis, Manolis

High-resolution genome-wide functional dissection of transcriptional regulatory regions in human

poster

Kelly, Derek E

Identifying the genetic and environmental determinants of gene expression variation in Africans

poster

Kentepozidou, Elsa

CTCF binding evolution helps maintain the integrity of topologically associating domains

poster

Kerpedjiev, Peter S

Fast visual exploration of hundreds of genome-wide datasets

poster

Kim, Jaemin

Whole genome sequence reveals selection for muscle, cardiovascular and neuronal genes in sport hunting dogs

talk

Kim-Hellmuth, Sarah

Estimating cell type abundance in GTEx enables insights into cellular mechanisms and origins of eQTLs

poster

King, James W

Identifying signatures of divergence in regulatory DNA across mammals

poster

Koren, Amnon

The genetic architecture of human DNA replication origin activity

talk

Korsunsky, Ilya

Single cell RNAseq and immunofluorescence imaging of joint stroma in rheumatoid arthritis reveals spatial organization of fibroblasts remodeled under inflammation

poster

Koshinsky, Heather

To genotype?  To sequence?  Biology of genomes to omnia vitae

poster

Krasileva, Ksenia

Evolution of NLR immune receptors in flowering plants

poster

Kumar, Vivek

Advancing collaborative research in systems biology using open-science, cyberinfrastructure of KBase

poster

Kundu, Kousik

Single-base resolution of autoimmune disease associations using molecular phenotypes

poster

Lakshmanan, Shyam

A CRISPR/Cas9-mediated screen of candidate genes in the regulation of optic fissure closure

poster

Lambert, Jason

In vivo deployment of a massively parallel reporter assay for the validation of enhancers active in postnatal brain development

poster

Lau, Billy

Single-cell multi-omic analysis of intratumoral heterogeneity and immune lineages in patient tumors for precision oncology

poster

Layer, Ryan M

Mining thousands of genomes for reliable structural variant population allele frequency estimates

poster

Lea, Amanda

Genotype and disease shape molecular co-regulation

poster

Lee, Dillon H

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

poster

Levene, Stephen

Extrachromosomal circular DNA (eccDNA) is a possible mediator of chromosomal polymorphism at multiple loci.

talk

Li, Dawei

A novel approach for discovering oncoviruses in human cancers using whole-genome sequencing

poster

Li, Robert W

Parasite induced changes in the gut microbiome and their pathophysiological implications

poster

Liao, Jingqiu

Serotype-specific evolutionary pattern of antimicrobial-resistant Salmonella enterica

poster

Ling, Emi

Regulation of cell type-specific enhancer commissioning by growth factor signaling

poster

Lipovich, Leonard

Global lncRNA proteogenomics with Riboseq and mass spectrometry pinpoints persistent ribosomal in-frame mis-translation of stop codons as amino acids in multiple open reading frames of a human long non-coding RNA

poster

Long, Quan

Fast, memory-efficient decomposition of prohibitively large genetic relatedness matrices

poster

Luca, Francesca

Variation in microbiome composition impacts human gene expression by changing chromatin accessibility

talk

Ma, Jianzhu

Using deep learning to model the hierarchical structure and function of a cell

poster

Mahler, Niklas

Integrating genetic variation with metabolite abundance and gene expression in Populus tremula

poster

Mak, Lauren

PoolHap2—De novo haplotype reconstruction from pooled pathogen next-generation sequencing data

poster

Malik, Naveen

Transcriptomics analysis of Candida glabrata treated with thymoquinone using RNA-seq

poster

Marom, Shani

The dynamics of mtDNA chromatin-like organization during metazoan embryogenesis

poster

Martin, Hilary C

Quantifying the contribution of recessive coding variation to developmental disorders

poster

Masutani, Bansho

Detection of DNA of a low abundance by a handy sequencer and a palm-size computer

poster

Mbunwe, Eric

Characterization of HLA alleles from targeted and whole genome sequences of ethnically diverse African populations

poster

McAllester, Christopher S

Inversions help maintain sexually antagonistic balanced polymorphism

poster

McCarthy, Davis J

Studying clonal cell populations with bulk exome and single-cell RNA-sequencing data

poster

McKenna, James

Testing robustness in the 'TT Method’—A simple and analytical method to infer model parameters under a  split model

poster

McMahon, Francis

Transcriptome diversity and alternative splicing of brain-expressed transcripts in adult psychiatric disorders

poster

Meyn, Stephen

Trio whole genome sequencing as a tool for gene discovery and genetic diagnosis in children with medical complexity

poster

Miller, Chase A

Comprehensive quality control of many samples using iobio

poster

Min, Josine

250,000 independent genetic influences on DNA methylation and the consequences of these perturbations—The GoDMC Consortium

poster

Mishmar, Dan

A common pattern of DNase-I footprinting throughout the human mtDNA unveils clues for a chromatin-like organization

poster

Mishmar, Dan

Human primitive brain displays negative mitochondrial-nuclear expression correlation of respiratory genes

poster

Mohammadi, Pejman

Using allelic expression data for studying rare disease biology

talk

Morgante, Michele

Transposable elements, structural variation and the grapevine pan-genome

poster

Moroz, Leonid L

NeuroSystematics and periodic system of neurons—Insights from millions of neurons sequenced across phyla

poster

Moscou, Matthew J

An ancient integration in a plant NLR is maintained as a trans-species polymorphism

poster

Mudge, Jonathan

The expansion and reconfiguration of the GENCODE lncRNA catalogs

poster

Munch, Kasper

Multiple selective sweeps removed Neanderthal admixture on the X chromosome in out-of-Africa populations

talk

Munoz, Manuel

Characterizing transcriptomic variation across human phenotypes by integrating RNAseq data with histopathology images and annotations

poster

Nakka, Priyanka

Incidence of uniparental disomy in 2 million individuals from the 23andMe database

poster

Naqvi, Sahin

Stepwise evolution of sex-biased gene expression in mammalian tissues

poster

Navarro, Fabio CP

Comprehensive survey of LINE-1 transcriptional activity in human cell lines, healthy tissue, and tumors

poster

Neibergs, Holly L

Identification of loci associated with embryonic and fetal loss in Holstein heifers

poster

Nelson, Dominic

An extended msprime coalescent simulation framework avoids biases from large sample sizes, and increases performance when simulating long regions

poster

Nicholas, Thomas J

Expanding GEMINI to annotate and prioritize subclonal mutations in heterogeneous tumors

poster

Niemi, Mari

Common genetic variation contributes to risk of rare developmental disorders

talk

Nishijima, Suguru

Epidemiological exploration of factors contributing to the population-level diversity in the human gut microbiome

poster

Nodzak, Conor M

Prediction of B-cell acute lymphoblastic leukemia subtypes from the expression of long noncoding RNAs and protein coding genes within common topologically associated domains

poster

Notwell, Jim

Merging gene annotations enables high-resolution cell type identification

poster

Oak, Ninad

ADmiRE—Annotation of microRNA sequence variation across human population and adult cancer datasets

poster

Oda, Arisa

Artificial genome rearrangement system using a restriction enzyme

poster

O'Donnell-Luria, Anne

The Rare Genomes Project—Improving our ability to diagnose rare genetic conditions through a nationwide partnership with families

poster

Oliva, Meritxell

Biological factors strongly impact cell type abundances in human tissues

poster

Onate, M. Kathrina C

A searchable catalogue of validated antibodies used in the ENCODE Project

poster

Ono, Yoko

Concurrent analysis of gene expression of complexed samples which consist of different species—Analysis of human and mouse gene expression in the liver from chimeric mouse treated with KMTR2

poster

Ostrander, Elaine A.

Catalog of 91 million variants extracted from whole genome sequence of 722 canids reveals new variants associated with morphology, life-span and behavior

talk

Pallares, Luisa F

Patterns of robustness and deregulation in gene expression networks under dietary stress

poster

Pedersen, Brent S

What did we miss? Quantifying and visualizing variant detection power in sequencing studies

poster

Phan, Lon

NCBI services for variant normalization, remapping, and annotation

poster

Phillippy, Adam

Complete assembly of parental haplotypes with trio binning

poster

Pinello, Luca

CRISPR-SURF—Exploratory and interactive software for analyzing CRISPR-based tiling screens

talk

Pinto, Yishay

Antiviral enzyme APOBEC3G introduces clustered inherited mutations that fuel adaptation in human populations

poster

Pique-Regi, Roger

centiSNPs—A compendium annotation to analyze eQTLs in heterogeneous tissues

poster

Plon, Sharon

Cancer risk among children with non-chromosomal birth defects in the Genetic Overlap Between Congenital Anomalies and Cancer in Kids (GOBACK) study—A population-based assessment in 10 million live births

talk

Pritchard, Jonathan

Trans-acting effects on gene expression drive omnigenic inheritance of complex traits

talk

Przytycka, Teresa M

NetREX-Network Reprogramming using Expression—Uncovering  sex-specific gene regulation in Drosophila

poster

Qiao, Yi

Identification of subclone-specific tumor cellular phenotypes by single-cell assignment to bulk DNA-derived subclones.

poster

Ragsdale, Aaron P

Efficient and exact computation of linkage statistics for inference

poster

Ramstein, Guillaume P

Using neural networks to predict gene expression—Application in genomic selection for field traits in maize

poster

Ratsch, Gunnar

Comprehensive alternative splicing analysis of 8,512 TCGA donors

poster

Ratsch, Gunnar

Pan-cancer study of heterogeneous RNA aberrations and association with whole-genome variants

poster

Razaz, Parisa

Dissecting tissue-specific functional networks associated with 16p11.2 reciprocal genomic disorder using CRISPR engineered human iPS and mouse models

talk

Reales, Guillermo

The relationship between evolutionary rates, expression and gene duplication in the serotonergic system

poster

Reman, Bethany

NextGen sequence profiling of eukaryotic diversity in deep subsurface biofilms

poster

Rhie, Arang

The Genome10K Vertebrate Genomes Project—Building de novo reference genomes for all vertebrate orders

talk

Rodriguez-Martinez, Jose A.

DNA binding preferences of Heliconius optix transcription factor

poster

Roedelsperger, Christian

Deep taxon sampling reveals the evolutionary dynamics of novel gene families in Pristionchus nematodes

poster

Rogers, Jeffrey

Fine-scale mapping reveals dramatically lower rates of recombination in rhesus macaques than in humans or great apes

poster

Roller, Masa

Tissue-specific enhancer and promoter evolution in mammals

talk

Rosenbloom, Kate

GTEx resources and new ‘barChart’ and ‘interaction’ track displays inspired by GTEx in the UCSC Genome Browser

poster

Rosenfeld, Jeffrey A

Long read sequencing of tumor DNA to analyze fusions and amplicons

poster

Roychowdhury, Tanmoy

Stabilizing role of early Alu expansion via non-allelic homology directed repair of spontaneous DSBs in germline

poster

Ruderfer, Douglas

Significant shared heritability underlies suicide attempt and clinically predicted probability of attempting suicide

poster

Runtuwene, Lucky R

Comprehensive analysis of antimalarial drug resistance in malaria parasite using portable DNA sequencer

poster

Sankararaman, Sriram

The impact of Neanderthal ancestry on human phenotypes

talk

Santos, Sergio

Assessing the usage of alternative transcripts in human tissues from RNA-seq

poster

Sasani, Thomas A

Directly measuring the dynamics of the human mutation rate using large, multi-generational pedigrees

poster

Schatz, Michael C.

Analyzing multi-omic instability in breast cancer with nanopore sequencing of patient-derived organoids

poster

Schierup, Mikkel Heide H

Direct estimation of mutations in great apes reveals significant recent human slowdown in the yearly mutation rate

poster

Schneider, Valerie A

Something old, something new—Resources for assembly curation and evaluation

poster

Schwartz, Gregory

HeatITup identifies ITD structural features determining AML patient response to FLT3 inhibitors.

poster

Sedlazeck, Fritz J.

Structural variation in 35,600 multi-ethnic human genomes and its implication for the genetic architecture of health and disease

poster

Semick, Stephen A

Brain region-specific DNA methylation correlates of schizophrenia and its genetic and developmental risk

poster

Sereewattanawoot, Sarun

Identification of potential regulatory mutations using multi-omics analysis and haplotyping of lung adenocarcinoma cell lines

poster

Sharon, Eilon

Functional genetic variants revealed by massively parallel precise genome editing

talk

Shcherbina, Anna

Transfer learning approaches for robust fine-mapping of putative causal regulatory variants associated with colorectal cancer

poster

Shen, Max W

Predictable and precise template-free CRISPR repair of disease mutations

talk

Shen, Ning

Small molecule modulation of the D4Z4 locus transcriptional activity in FSHD

poster

Sherlock, Gavin

Exploring the joint distribution of fitness effects for beneficial mutations in yeast

talk

Shi, Xinghua Mindy

New strategies toward scaling up epistasis analysis on large-scale genomic datasets

poster

Shimizu, Atsushi

iMETHYL—An integrative human multi-omics QTL database for 3 blood cell types

poster

Short, Patrick J

The contribution of de novo mutations in ultra-conserved regulatory elements to neurodevelopmental disorders and autism spectrum disorder

talk

Shoura, Massa

Affairs of the heart—How eccDNA-mediated scars in the TTN gene may contribute to myofiber diversity

talk

Simon, Michelle

The predictive capacity of regulatory elements to impact mammalian phenotypes

poster

Smirin-Yosef, Pola

A study of ethnic polymorphic copy number variations in the Israeli population

poster

Smonskey, Matthew T

CHO-Omics Review—The impact of current and emerging technologies on Chinese hamster ovary based bioproduction

poster

Song, Wei

Dichotomy in redundant enhancers reflects differences in sequence encryption and gene regulatory mechanisms

poster

Stranger, Barbara

Sex differences at the molecular level—Lessons from the human transcriptome

poster

Strattan, J Seth

The ENCODE Annotation Pipeline—Software architecture for reproducible analyses of ChIP-seq, RNA-seq, Dnase-seq, ATAC-seq, HiC ,ChIA-PET, and whole-genome bisulfite experiments

poster

Strober, Benjamin J

Dynamic effects of genetic variation on gene expression during cellular differentiation

talk

Subramaniam, Meena

Population scale single cell sequencing to reveal context specific effects of SLE variants

talk

Suzuki, Yuta

A statistical method enables to estimate personal diploid methylome and transcriptome with long reads

poster

Takayasu, Lena

Monitoring changes in gut microbiomes throughout the life in mice

poster

Tello-Ruiz, Marcela K

Gramene—Unifying comparative genomics and pathway resources for plant communities

poster

Thakur, Rohit

Application of machine learning to primary melanoma transcriptomes to predict prognosis in a population-based cohort

poster

Tipireddy, Shubhakar Reddy

An endeavor to assemble human centromeres from long reads

poster

Tishkoff, Sarah

Novel loci associated with skin pigmentation identified in African populations

talk

Trejo Banos, Daniel

Joint modeling of genetic and epigenetic effects for complex phenotypes

poster

Treusch, Sebastian

High-throughput single-cell DNA sequencing using droplet microfluidics

poster

Truong, David M

Resurrection of histone H3 K27 methylation in Brewer's yeast by human PRC2 and plant ATXR6

talk

Trynka, Gosia

Functional fine-mapping of asthma and IBD association at 11q13.5 suggests a Treg-specific enhancer that drives STAT5-responsive expression of GARP

poster

Urban, Lara

Assessing the impact of gene regulatory variation on mutational processes active in cancer

poster

Vaccarino, Flora

Integrative multi-omics analyses of iPSC-derived brain organoids identify early determinants of human cortical development

talk

Varshney, Arushi

Genetics effects on enhancer activity in human pancreatic islets

poster

Velinder, Matthew

Iterative reanalysis using novel genomic research tools improves clinical exome diagnostic yield in complex undiagnosed disease cases

poster

Vinuela, Ana

T2D disease status alters the effects of genetic variation on molecular phenotypes—A DIRECT study

poster

Vosa, Urmo

Trans-eQTL meta-analysis in more than 31,000 blood samples associates downstream genes and pathways with polygenic risk

poster

Wade, Alexandria A

Disruptions to RNA processing and gene regulation as convergent mechanisms associated with mutation to CHD8

poster

Wang, Hai

Dissecting transcriptional regulation by machine learning

poster

Wang, Ming-Qiang

Hybrid de novo assembly of Branchiostoma belcheri Beihai amphioxus genome

poster

Ward, Alistair N

Including medical professionals in the hands-on practice of genomic data analysis—Clinician-driven analysis of genomic patient data

poster

Ward, Michelle C

Species-specific transcriptional changes in response to oxidative stress in iPSC-derived cardiomyocytes from humans and chimpanzees

poster

Wei, Sharon

Gramene maize pan-genome browser

poster

Wheelan, Sarah

Retrotransposon expression in human cells

poster

Wick, Heather

CHADfinder—A computational method to evaluate multiplex PCR amplicon quality and primer behavior for iterative optimization

poster

Winden, Eamon M

Molecular tethers for very large DNA molecules

poster

Wrzesinski, Tomasz M

Nanopore sequencing reveals the transcriptional complexity of neuropsychiatric disease genes in human brain

poster

Wu, Kou-Juey

A novel lncRNA MAHAC is essential for hypoxia-induced histone modification and tumor progression

poster

Wurm, Yannick

Brain gene expression response to pesticide exposure indicates effects on cognition

poster

Wurm, Yannick

Degenerative expansion of a young "social chromosome" supergene

poster

Yadav, Rachita

Dissecting the causal mechanism of X-linked dystonia-parkinsonism by integrating genome and transcriptome assembly

poster

Yeung, Jake

Clock-dependent chromatin topology modulates circadian transcription and behavior

talk

Yu, Qi

Genetic recombination is not limited to hotspots in dog meiosis

poster

Zarate, Samantha L

Parliament2—Benchmarking a structural variant consensus caller compared to individual methods

poster

Zhang, Feng

Advances in genome editing technologies

talk

Zhao, Xuefang

Integration and assembly of extant sequencing technologies to enable complete structural variation discovery and phasing

poster

Zhao, Yuehui

Identification of a beneficial, complex, genetic rearrangement in rcan-1, an ortholog of the down syndrome critical region protein 1 (DSCR1/RCAN1), in a laboratory strain of C. elegans

poster

Zhao, Zhongming

Mega-analysis of odds ratio (MegaOR)—A convergent method for deep understanding the genetic evidence in schizophrenia

poster