The Biology of Genomes
May 11 - 14, 2021

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

Virtual Meeting program informationAn preliminary PDF of the program abstract book will be sent approximately 5 days prior to the first day of the meeting.  The final, hyperlinked abstract book will be available for download on the first morning of the meeting.

**Please check your email for the length of your talk, poster instructions, links to the webinar, and how to prepare and submit your poster PDF for the virtual poster session. 

Abstract Status

Presenting Author

Abstract Title

Talk/Poster

Abatti, Luis E

Epigenetic misactivation of a novel distal enhancer drives SOX2 overexpression in multiple cancer subtypes

poster

Abyzov, Alexej

CNVpytor—A tool for CNV/CNA detection and analysis from read depth and allele imbalance in whole genome sequencing

poster

Abyzov, Alexej

Early developmental asymmetries in cell lineage trees in living individuals

poster

Aerts, Stein

From single-cell multi-omics to gene regulatory networks and enhancer logic

talk

Aganezov, Sergey

A complete human reference genome improves variant calling for population and clinical genomics

poster

Agarwal, Vikram

The landscape of alternative polyadenylation in single cells of the developing mouse embryo

poster

Aguilar, Robin M

Tigerfish—An efficient workflow for the design of oligonucleotide in situ hybridization probes to visualize satellite DNA

poster

Akter, Hosneara

Detection of clinically relevant copy number variations and genes in a Bangladeshi cohort of neurodevelopmental disorders

poster

Alasoo, Kaur

eQTL Catalogue—A compendium of uniformly processed human gene expression and splicing QTLs

poster

Allen, Jamie

Non-vertebrate genome annotation in Ensembl

poster

Alquicira-Hernandez, Jose

Population-scale single-cell analysis reveals cell-type specific genetic control of gene expression in immune cells

talk

Altemose, Nicolas F

Genetic and epigenetic maps of endogenous human centromeres

poster

Alver, Maris

Refining the genetic regulation of gene expression in schizophrenia

poster

Amariuta, Tiffany

Modeling tissue co-regulation to quantify tissue-specific contributions to disease heritability and genetic correlation

poster

Aneas-Swanson, Ivy

Integrated pipeline to fine-map and functionally characterize the asthma-associated variants at the IL33 locus

poster

Antonacci-Fulton, Lucinda

Human Pangenome Reference Consortium Coordinating Center

poster

Antonio, Margaret L

The development of present-day human population structure in Europe and the Mediterranean

poster

Aqil, Alber

Genomic deletions that evolved under balancing selection in modern humans

poster

Ariad, Daniel

Classifying the origins of aneuploidy to improve genetic testing

poster

Arvanitis, Marios

Re-defining tissue specificity of genetic regulation of gene expression in the presence of complex allelic heterogeneity

poster

Asalone, Kathryn C

A transcriptomic pipeline adapted for genomic sequence discovery of germline restricted sequence in zebra finch, Taeniopygia guttata

poster

Atanur, Santosh

De novo mutations in fetal brain enhancers play role in intellectual disability

poster

Aulchenko, Yurii

Omingenic model through a lens of genetics of protein N-glycosylation

poster

Avalos, Diana

Genetic variation in cis regulatory domains and trans regulatory hubs of immunity

poster

Baduel, Pierre

Genetic and environmental modulation of transposition shapes the evolutionary potential of Arabidopsis thaliana

poster

Baggs, Erin L

Evolution and diversity of immune sensing in plants—Lessons from minimal immunity models

talk

Bailey, Matthew H

Combined molecular characterization and functional drug-responses in advanced cancer organoids enhance transcriptomic and genomic biomarker discovery for investigational therapeutics

talk

Band, Gavin

Evidence for genetic interaction between humans and malaria parasites in west and east Africa

talk

Banerjee, Abhimanyu

Deep learning models of 422 C2H2—Zinc Finger transcription factor binding profiles reveal alternative DNA binding sequence preferences via combinatorial use of zinc fingers

talk

Banovich, Nicholas E

Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with local ancestry and archaic introgression

poster

Banovich, Nicholas E

Multi-modal single cell profiling of GBM patients treated with CAR T cell therapy to elucidate molecular mechanisms of variation in treatment response

talk

Baums, Iliana

Genomic signatures of biased introgression in F1 coral hybrids

talk

Becker, Timothy J

Structural variation genotyping by feature moment based convolutional neural networks

poster

Belleau, Pascal

Quantifying similarity between copy number profiles with CNVMetrics package

poster

Benjamin, Kynon J M

Genetic and environmental regulation of caudate nucleus transcriptome—Insight into schizophrenia risk and the dopamine system

poster

Berthelot, Camille

An atlas of duplicated fish genomes to investigate genome evolution after polyploidization

poster

Boix, Carles

Single-cell temporal and spatial dissection of Alzheimer’s disease progression across multiple brain regions

talk

Bonora, Giancarlo A

Single-cell landscape of nuclear configuration and gene expression during stem cell differentiation and X inactivation

poster

Botvinnik, Olga

Single-cell transcriptomics for the 99.9% of species without reference genomes

poster

Boukas, Leandros

Purifying selection acts on germline DNA methylation to modify the CpG mutation rate at promoters

poster

Bousquets, Pablo

PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in the spliceosome U2 small nuclear RNA

poster

Bracht, John R

Understanding the role of MANF / ARMET in the stress response of the subterrestrial nematode Halicephalobus mephisto

poster

Bredemeyer, Kevin R

Single haplotype genome assemblies reveal remarkable rates of X-linked satellite evolution and a role in reproductive isolation.

poster

Brenner, Steven

The role of exome sequencing in newborn screening

poster

Brunson, Timothy J

Idg.reactome.org—A web-based platform for visualizing dark proteins in the context of Reactome pathways

poster

Buckley, Reuben M

Best practices for analyzing imputed genotypes from low-pass sequencing in dogs

poster

Bultmann, Sebastian

Global DNA demethylation waves in early mammalian development—A Stella innovation?

poster

Byers, Candice

Genetic control of the pluripotency epigenome determines differentiation bias in mouse embryonic stem cells

poster

Cai, Haoran

Reconstructions of dynamic transcriptional regulatory networks via temporal correlations robustly reveal coherence of regulatory activities upon environmental perturbations

poster

Campbell, C. Ryan

Social behavioral control of cell-to-cell gene expression variance in rhesus macaque immune cells

poster

Campoy Garcia, Maria Elena

Human polymorphic inversions—Origin, selective constraints and relationship with functional elements

poster

Cao, Xiaolong

A massive proteomics screen of transcripts from diverse tissues identifies thousands of noncanonical coding sequences

poster

Capellini, Terence D

Joint disease phenotypic specificity at the regulatory base-pair level

poster

Capellini, Terence D

The developmental genetic impacts of natural selection on human hindlimb morphology

poster

Carioscia, Sara A

Haplotype phasing, genotype imputation, and mapping of meiotic crossovers from sparse gamete sequencing data

poster

Castillo Siri, Andreina I

Global trends in homologous recombination in a bacterial plant pathogen

poster

Castro-Pacheco, Nathan C

Cross-species alternative isoform usage in BICCN brain cell types

poster

Castro-Pacheco, Nathan C

Quantifying isoform expression in single-cell RNA-seq data with STARsolo-Quant

poster

Cavassim, Maria Izabel A

The evolution and co-evolution of PRDM9 across vertebrates

poster

Chan, Tsz-Fung

Estimating heritability explained by local ancestry and evaluating confounding bias in admixture mapping from summary statistics

poster

Chari, Tara

Whole animal multiplexed single-cell RNA-seq reveals plasticity of Clytia Medusa cell types

talk

Chen, Benson

Discovery and functional characterization of pro-growth enhancers in human cancer cells

poster

Chen, He

Cell-type specific mapping of the epigenomic landscape of rare renal cells

poster

Chen, Huidong

SIMBA—Single cell embedding along with features

poster

Cheng, YuHsuan

Genome plasticity in Paramecium bursaria revealed by population genomics

poster

Chiang, Zachary D

In situ genome sequencing resolves DNA sequence and structure in intact biological samples

talk

Chiou, Kenneth L

Adaptations to high altitude in the gelada genome

poster

Chlenski, Philippe

Peak-to-trough ratio analysis reveals novel associations with microbial dynamics in liver transplant patients

poster

Chouvardas, Panagiotis

Systematic discovery and characterization of cis-regulatory long noncoding RNAs

poster

Chu, Tin Yi

A Bayesian cell-type deconvolution and gene expression inference for bulk RNA-seq and spatial transcriptomics

talk

Cohn, Rachel

Investigation of TNNT2 genetic variants in heart failure

poster

Corbett, Sybilla

A new human genome screen catalogue

poster

Corbett-Detig, Russ

Pandemic phylogenetics—Maintaining a real-time, comprehensive phylogeny of all SARS-CoV-2 genomes

poster

Costa Monteiro Moreira, Gabriel

Live (epi)genomic battle between unfixed transposable elements and their cognate piRNA clusters in cattle testes

talk

Craig, Sarah J

Metabolomic profiling of stool of two-year old children from the INSIGHT study reveals links between butyrate and child weight

poster

Daane, Jacob

Comparative phylogenomics in fishes to identify genetic mechanisms of evolution, development, and disease

poster

Das, Maitreya

Direct assessment of impact of transcription factors on enhancer activity

poster

Daunesse, Maelle

Mitochondrial heteroplasmy in chemically induced mouse liver tumours

poster

Davtian, David

Discovery of type 2 diabetes genes using an accessible tissue

poster

de Boer, Carl G

A comprehensive fitness landscape model reveals the evolutionary history and future evolvability of eukaryotic cis-regulatory DNA sequences

talk

Di Sera, Tonya

Predicting exceptional responders to cancer drugs—A deep learning model that generalizes beyond cell lines

poster

Diesh, Colin M

JBrowse 2—An extensible platform for genome data visualization

poster

Donegan, Monica

Gene gain and loss is linked to host jumps in a plant pathogen

poster

Drury, Austin

Modeling recombination rate as a quantitative trait reveals new insight into selection in humans

poster

Dupuis, Theo

Quantifying the shared genetic effects on the regulation of expression and protein levels using related and unrelated individuals

poster

Ebersberger, Ingo

The evolutionary trajectory of Acinetobacter pathobiology

poster

Edwards, Scott V

Convergent evolution of gene expression and chromatin accessibility in flightless birds (Palaeognathae)

talk

Emani, Prashant S

PLIGHT—A tool to assess privacy risk by inferring identifying characteristics from sparse, noisy genotypes

poster

Enard, Wolfgang

TRNP1 sequence, function and regulation co-evolve with cortical folding in mammals

poster

Erwin, Graham S

A survey of recurrent repeat expansions in human cancer genomes

poster

Esposito, Roberta o

Cancer cells refine their fitness via function-altering mutations in long noncoding RNAs

poster

Felker, Stephanie A

Characterizing poison exons and their role in neurodevelopmental disorders

poster

Flot, Jean-François

GraphUnzip—Unzipping GFAs to obtain fully phased assemblies

poster

Flot, Jean-François

PCI Genomics—A free and transparent recommendation platform for preprints in genomics

poster

Fogel, Arielle S

Behavioral barriers to gene flow shape the admixture landscape of the baboon genome

poster

Foley, Nicole

Adaptive introgression and chromosome architecture facilitated the evolution of viral tolerance in the largest extant bat radiation

poster

Fraser, Hunter

Human-chimpanzee hybrid stem cells as a platform for exploring human evolution

talk

Furlong, Eileen

Dissecting function in the regulation of developmental trajectories

talk

Gacesa, Ranko

The Dutch Microbiome Project defines factors that shape the healthy gut microbiome

poster

Gaiti, Federico

Deciphering the epigenetic encoding, heritability, and plasticity of transcriptional cancer cell states via single cell multi-omics

talk

Galupa, Rafael

Inversion of a topological domain leads to restricted changes in its gene expression and affects inter-domain communication

poster

Gao, Dadi

A deep learning approach to identify gene targets of a therapeutic for human splicing disorders

poster

Garcia-Perez, Raquel

The landscape of splicing and expression variation across human phenotypes

poster

Gazal, Steven

Optimal combination of SNP-to-gene linking strategies pinpoints disease genes and informs disease gene-architecture

poster

Gazda, Malgorzada

Molecular parallelisms between pigmentation in the avian iris and the integument of ectothermic vertebrates

poster

Genzor, Pavol

Aberrant germline genes in-action?

poster

Georges, Michel

Combined analysis of single cell RNA-Seq and ATAC-Seq data reveals regulatory toggles operating in native and iPS-derived retina

poster

Georges, Stephanie

Oncogene.iobio—A visually-rich, interactive web tool for examining and prioritizing cancer genomic alterations

poster

Gershman, Ariel

Long reads reveal epigenetic patterns from telomere to telomere

poster

Ghosh, Avantika

Chimeric oligonucleotides containing guide RNA sequence and single-stranded DNA repair template effectively induce precision gene editing in mammalian cells

poster

Giacomello, Stefania

Unveiling spatial host-microbiome profiles by applying spatial transcriptomics

poster

Gilmore, Rachel B

Understanding repression of maternal 15q11-q13

poster

Girard, Simon

A study of the genetic structure of three founder populations

poster

Girgis, Hani Z

Identity—A fast intelligent software tool for calculating pairwise sequence alignment identity scores without aligning sequence pairs

poster

Gokcumen, Omer

Sex-specific phenotypic effects and evolutionary history of an ancient polymorphic deletion of the human growth hormone receptor

poster

Gonzalez del Rosa, Pablo Manuel

New ends with new technology—Chromosome diminution in Oscheius nematodes

poster

Gozashti, Landen

A systematic search across eukaryotic genomes suggests unified proximate and ultimate models of de novo intron creation

poster

Grimes, Karen

scNOVA—Haplotype-aware single-cell multiomics identifies direct consequences of structural variants in cancer

talk

Guarracino, Andrea

The PanGenome Graph Builder

poster

Guerin, Megan N

The mitochondrial genome of the devil worm reveals evolutionary adaptations to hypoxia

poster

Guiblet, Wilfried M

Selection and thermostability at G-quadruplex loci in the human genome

poster

Gupta, Akshi

Ortholog replacement reveals a novel function of the transcription factor TFIIIC complex in mitotic chromosome segregation

poster

Gutierrez, Monica

The epigenomic landscape of hematopoietic stem cell myeloid skewing in aging

poster

Haase, Astrid

Two classes of piRNAs separate silence from diversity

poster

Haba, Yuki

The genomic status and evolutionary history of Culex pipiens mosquito ecotypes

poster

Halgren, Alma S

Signatures of convergent evolution and local adaptation at structural variants in chimpanzees and humans

poster

Hanks, Sarah

Effect of ancestry on extent to which array genotyping and imputation with large reference panels can replace deep genome sequencing

poster

Hansen, Grace

Female waist-to-hip ratio is regulated by a recently-evolved gene network that affects adipogenesis

poster

Hardison, Ross

Systematic integration of epigenomic landscapes in mouse and human blood cells to predict activity of regulatory elements

poster

Harris, Andrew J

Tree House Explorer—A novel genome browser for phylogenomics

poster

Harris, Kelley

Discovery of a quantitative trait locus for the germline mutation rate in mice

talk

Hart, Samuel F

Genome evolution of soft-shell clam transmissible cancer

talk

Hawsawi, Yousef M

Novel genetic variants that associated with Alport syndrome in Saudi population

poster

He, Yuan

Multi-study chromatin accessibility QTL mapping reveals global and context-specific regulatory mechanisms to improve GWAS interpretation

talk

Hirschi, Owen R

Whole genome sequencing and analysis of the BASIC3 childhood cancer cohort

poster

Hong, Clarice

Modularity between chromosomal environments and diverse core promoters

talk

Hou, Lei

Multi-tissue epigenomic variation across 435 GTEx samples helps interpret brain, heart, muscle, and lung disease genetics

poster

Hoyt, Savannah

From telomere to telomere—Characterizing the transcriptional and epigenetic state of repeat elements

poster

Hu, Zhiqiang

Biological discovery and consumer genomics databases activate latent privacy risk in functional genomics data

poster

Hung, King L

Extrachromosomal oncogene amplifications contribute to cancer cell heterogeneity

poster

Hung, Yu-Han Amy

Integrative genomic analysis uncovers candidate roles for microRNAs in early gut development using a human organoid model

poster

Ietswaart, Robert

GeneWalk identifies relevant gene functions for a biological context using network representation learning

poster

Iyer, Shruti V

Understanding genetic variation in cancer using nanopore targeted sequencing

poster

Janko, Karel

Genome fractionation and loss of heterozygosity in hybrids and polyploids—Mechanisms, consequences for selection, and link to gene function

poster

Jansen, Camden S

Semi-supervised machine learning approaches to understanding hematopoietic cell decisions

poster

Jansma, Abel

Complex gene regulation—Higher-order interactions in single cell expression data

poster

Jensen, Sarah

Building a thermal adaptation profile for plant genomes

poster

Jeon, Eun Young

ZNF750 loss of function contributes to acanthotic type of seborrheic keratosis

poster

Jiang, Jiayue-Clara

Integrated transcription factor binding and transcriptomic analysis revealed LINE1 retrotransposons as prominent contributors of regulatory activity in breast cancer

poster

Jiang, Pengyao

A modified fluctuation assay reveals a natural mutator phenotype that drives mutation spectrum variation within Saccharomyces cerevisiae

poster

Jighly, Abdulqader

Modernizing conventional mathematical models in agriculture—With potential applications in personalized medicine

poster

Johnson, Rory

CRISPR, cancer and long noncoding RNAs

poster

Judd, Jon

Regulatory architecture underlying lipid biology in 1.7 million individuals of diverse ancestry

poster

Jungreis, Irwin

SARS-CoV-2 gene content and COVID-19 mutation impact by comparing 44 Sarbecovirus genomes

poster

Kamber, Roarke

Systematic identification and characterization of novel regulators of antibody-dependent cancer cell phagocytosis

poster

Kamberov, Yana G

The repeated mutation of a developmental enhancer underlies human thermoregulatory evolution

talk

Karan, Kalpita R

Mitochondrial DNA insertions in the nuclear genome during human aging

poster

Karbalayghareh, Alireza

Chromatin interaction aware gene regulation model with graph neural networks

poster

Karlsson, Kasper

Experimental evolution in organoids reveals subclonal dynamics and molecular determinants of gastric tumorigenesis

talk

Keller, Ashleigh

CRISPR-mediated transcriptional repression with a novel dCas9 fusion protein and synthetic guide RNAs

poster

Kemper, Kathryn

Genetic control of intra-individual variability

poster

Kenney, Ana Maria

Constructing a polygenic risk score for childhood obesity using functional data analysis

poster

Kentepozidou, Elissavet

Mutational landscape of transcription factor binding sites in chemically-induced liver tumours

poster

Khokhar, Eraj S

Noise to signal—exploring the landscape of noisy splicing

poster

Khurana, Ekta

Construction of patient-specific gene regulatory networks reveals novel enhancers regulating key cancer genes

poster

Kitzman, Jacob O

Massively parallel functional classification of missense variants in Lynch syndrome

poster

Kliesmete, Zane

Effect of pleiotropy on regulatory sequence evolution

poster

Kolora, Rohit

Origins and evolution of extreme lifespan in the adaptive radiation of Pacific rockfish

poster

Korsunsky, Ilya

Cross-tissue, single-cell stromal atlas identifies shared pathological fibroblast phenotypes in four chronic inflammatory diseases

poster

Korunes, Katharine

Sex-biased admixture and assortative mating shape genetic variation and influence demographic inference in admixed Cabo Verdeans

poster

Kragesteen, Bjoert

Hypoxia adaptation in the Tibetan population unravels the identity and regulation of Epo-producing renal cells

poster

Krasnitz, Alexander

Accurate inference of genetic ancestry from cancer-derived data

poster

Kumar, Vivek

Multi-omics data driven modeling of plants, microbes and their communities—Next generation biological research using KBase

poster

Kwon, Young

Genetics of domestication in betta fish

talk

LaBella, Abigail L

Characterization of the evolutionary forces acting on genomic regions associated with >500 human complex traits

poster

Lariviere, Delphine

Mother and child methylation profiles at birth linked to early childhood obesity

poster

Lascano Maillard, Josefina

The effect of mitochondrial population genome variation on nuclear gene expression

poster

Lee, Hayan

Multi-faceted epigenetic dysregulation of gene expression promotes esophageal squamous cell carcinoma

poster

Lee, Nicholas

Representation learning of genomic sequence motifs via information maximization

poster

Lee, Young-Lim

Pedigree-based de novo rate estimation for structural variation in the cattle germline

poster

Lencz, Todd

Utility of polygenic embryo screening for disease depends on the selection strategy

poster

Lengerich, Benjamin

Bayesian probabilistic graphical models for learning 10,000 single-cell regulatory networks in adult mouse brain

poster

Ley, Ruth

Codiversification of gut microbes and their human hosts

talk

Li, Chang

MetaRNN—Differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning

poster

Li, Ruoxin

Deep representation learning for measuring variation in gene co-expression networks in Alzheimer’s disease

poster

Li, Xinzhe

Enrichment of heritability in neuron electrophysiology genes across mental disorders

poster

Li, Xue

Investigating the genetics of social behavior in wolf-dog hybrids

poster

Li, Yuanning

Rooting the animal tree of life

poster

Liang, Minggao

Genome-wide characterization of gene regulatory networks and cis-regulatory mechanisms during the acute phase response

poster

Liang, Yanyu

BrainXcan—Associating genetically predicted image-derived phenotypes with complex traits to inform their biology

poster

Liu, Dang

Assessing human genome-wide variation in the Massim region of Papua New Guinea and implications for the Kula trading tradition

poster

Liu, George

Single-cell transcriptomic analyses of dairy cattle ruminal epithelial cells during weaning

poster

Liu, Zian

Structural underpinnings of mutation rate variations and regulatory site polymorphisms in the human genome

poster

Logsdon, Glennis A

Telomere-to-telomere assembly of human chromosome 8 and the rapid evolution of centromeres

poster

Lopera, Esteban A

Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project

poster

Lopez Hernandez, Jose F

Natural variation of mating phenotypes impact the spread of selfish meiotic drivers

talk

Lu, Shaina

Assessing the replicability of spatial gene expression using atlas data from the adult mouse brain

poster

Luebeck, Jens

Extrachromosomal DNA in HPV-mediated oropharynx cancer is a driver of viral-human hybrid oncogene transcription

talk

Lunde, China

Improved ‘Kronos’ wheat assembly using ONT Nanopore long-read sequencing for functional genomics

poster

Luo, Yang

Genome-to-genome analysis identifies the effect of the host immune systems on Mycobacterium tuberculosis and its impact on clinical outcomes

poster

Lykoskoufis, Nikolaos

The interplay between regulatory variants, transposable elements and gene expression in the context of colorectal cancer

poster

Lypaczewski, Patrick

Interspecies hybridization with Leishmania donovani is associated with human cutaneous leishmaniasis

poster

Ma, Li-Jun

Transposable elements drive adaptive evolution in the cross-kingdom fungal pathogen Fusarium oxysporum

poster

MacMillan, Hannah

High throughput analysis of circular forms of ANRIL, a lncRNA in the CDKN2A/B locus with implications in metabolic disease

poster

Majdandzic, Antonio

Correcting gradient-based attribution methods for neural networks in genomics

poster

Martorella, Molly

Optimization of low cost, noninvasive RNA-sequencing to enable massive scaling of transcriptome studies

poster

Maude, Hannah

High-resolution mapping of human liver regulomes

poster

McCarroll, Steven A

Protein repeat polymorphisms shape diverse human phenotypes

talk

Mead, Matthew

An evolutionary genomic approach reveals both conserved and species-specific genetic elements related to human disease in closely related Aspergillus fungi

poster

Mitchell, Jennifer A

A flexible repertoire of transcription factor binding sites and diversity threshold determines enhancer activity in mammalian genomes

talk

Mo, Ziyi

SIA—Selection Inference using the Ancestral recombination graph

poster

Moffitt, Andrea

MASQ—Ultrasensitive measurement of tumor load in cell-free DNA and its application to monitoring response in pancreatic cancer

poster

Moorjani, Priya

Investigating the sources of variation in mutation spectra in human evolution

talk

Morris, Derek

Identification of 13 independent genetic loci associated with cognitive resilience in healthy aging in 330,097 individuals in the UK Biobank

poster

Morris, John A

Discovery of target genes and pathways of blood trait loci using pooled CRISPR screens and single cell RNA sequencing

poster

Morrissey, Alexis

Accurately and efficiently rescuing multi-mapped reads in ChIP-seq analysis pipelines

poster

Munoz, Manuel

Spatial deconvolution of gene expression from paired samples of bulk RNA-seq and histological images with deep learning

poster

Munusamy, Prabhakaran

Joint profiling of cynomolgus testicular germ cells reveals gene regulatory networks in spermatogonia

poster

Murphy, Terence

Annotating genomes at NCBI RefSeq in the era of 3rd generation sequencing

poster

Muthuirulan, Pushpanathan

The regulatory control of height variation at anatomical site-specific resolution

poster

Myers, Alexandra

An ancient haplotype containing antimicrobial peptide genes is associated with severe fungal skin disease in Persian cats

poster

Nair, Surag

Single-cell chromatin and expression dynamics of human somatic cell reprogramming

poster

Naqvi, Sahin

Shared heritability of human face and brain shape

poster

Nekrutenko, Anton

Genome assembly on global scale—Democratizing VGP workflows

poster

Nepper, Julia F

Genetic regulation of soil microbe biofilm formation in response to sublethal antibiotic treatment

poster

Novikova, Gloriia

Integration of Alzheimer's disease genetics, myeloid cell genomics and gene regulatory networks reveals novel disease risk mechanisms

poster

Nurk, Sergey

Assembling the complete sequence of a human genome

poster

Nyasimi, Festus

Sparse penalty yields improved prediction models of metabolites in a Hispanic population

poster

Oggenfuss, Ursula

Invasion routes of transposable elements across the genome of a fungal pathogen

poster

Oguchi, Akiko

Single-cell enhancer identification reveals genetic and evolutionary diversity of human diseases

poster

O'Neill, Mary B

Population differences in epigenetic and transcriptional responses to challenge by RNA viruses at the single-cell level

talk

Page, Stephanie C

Electrophysiological characteristics of human iPSC-derived neurons across diagnosis, clinical symptoms, and cognition in schizophrenia

poster

Pal, Soumitra

Modeling gene expression evolution with EvoGeneX uncovers differences in evolution of species, organs and sexes

poster

Pallares, Luisa F

Diet unmasks genetic variants that regulate lifespan in outbred Drosophila

talk

Pampari, Anusri

Base-resolution deep learning models of chromatin state reveal heterogeneous cis-regulatory sequence motif syntax and functional regulatory variation

talk

Pan, Joshua

Representations of gene function from fitness screen collections

poster

Park, Eddie

Genetic variation and microRNA targeting of A-to-I RNA editing fine tune human tissue transcriptomes

poster

Parrish, Phoebe C

Discovery of synthetic lethal and tumor suppressive paralog pairs in the human genome

poster

Paulini, Kayla

Using CRISPR-Cas9 technology to study Leishmania donovani virulence factors

poster

Peneder, Peter

Accurate detection and classification of pediatric sarcomas based on cell-free DNA fragmentation patterns inferred from whole genome sequencing

poster

Peree, Helene

Comparative analysis of ultra-low input RNA sequencing methods for the study of rare immune cell populations

poster

Phan, Lon

NCBI ALFA Release 2 for 900 million variants from 200K subjects

poster

Phillips, Megan A

Examination of gene loss in the DNA mismatch repair pathway and its mutational consequences in a fungal phylum

poster

Pietrzak, Stefan

Establishing the role of essential enhancers in somatic cell reprogramming

poster

Pineda, Sebastian

Single-cell dissection of ALS and FTLD in human primary motor cortex

poster

Pinglay, Sudarshan

Synthetic genomic reconstitution reveals principles of mammalian Hox cluster regulation

talk

Plassais, Jocelyn

Natural and human driven-selection of a single non-coding body size variant in ancient and modern canids

poster

Popadin, Konstantin

A billion-year trend of amino acid substitutions in the mitochondrial genome

poster

Popp, Joshua

Single-cell sequencing reveals lineage-specific, dynamic effects of genetic variation on gene expression during cardiomyocyte differentiation

poster

Pott, Sebastian

A single cell multi-modal atlas of the human heart facilitates interpretation of the genetic architecture of complex traits

poster

Pouryahya, Fatemeh

Paired terminals in unlabelled trees and inferences about autopolyploids

poster

Priya, Sambhawa

Shared and disease-specific host gene-microbiome interactions across human diseases

talk

Putman, Audrey

Epigenetic mechanisms and phenotypic plasticity in the adaptation of a vertebrate model system to novel environments

poster

Ramisch, Anna

Dynamics of gene regulatory organization based on longitudinal twin RNA-seq

poster

Rampino, Antonio

Polygenic risk for schizophrenia and metabolic syndrome interact on metabolic phenotypes in patient with schizophrenia treated with antipsychotics

poster

Randolph, Haley E

Single-cell RNA-sequencing reveals pervasive but highly cell type-specific genetic ancestry effects on the response to viral infection

talk

Rauluseviciute, Ieva

Identification of transcription factor co-binding partners using non-negative matrix factorization

poster

Réal, Aline

Population-based transcriptome profiling using long-read sequence to dissect the interplay between genetic variant and transcript variation

poster

Reales, Guillermo

Genetic feature engineering on blood cell traits to characterise the genetic architecture of immune-mediated diseases

poster

Regev, Aviv

A single-cell and spatial atlas of autopsy tissues reveals pathology and cellular targets of SARS-CoV-2

talk

Reisinger, Raquel M

A probabilistic graphical model (PGM) to identify patients with undiagnosed Mendelian diseases using pedigrees and electronic medical records (EMRs)

poster

Ribeiro, Diogo M

Comparison of local gene co-expression patterns across dozens of individuals using single-cell RNA-sequencing

poster

Riudavets Puig, Rafael

UniBind—Maps of high-confidence direct TF-DNA interactions across nine species

poster

Rokhsar, Daniel

Genome tectonics and the evolution of metazoan chromosomes

poster

Rose, Noah H

Mosquito evolution and emerging disease in the human era

poster

Roura Canalda, Adria-Jaume

Identification of transcription factor binding sites in human glioblastoma cell lines using high-throughput chromatin-accessibility profiling, transcriptomics and epigenetics

poster

Roy, Scott

Sex chromosomal transformation and the origins of a male-specific X chromosome in the creeping vole, Microtus oregoni

poster

Russell, Pamela

BioCantor—A Python library for feature arithmetic in arbitrarily nested coordinate systems

poster

Ruzicka, Brad

Single-cell dissection of schizophrenia reveals neurodevelopmental-synaptic axis and subpopulation specific pathologies

poster

Sahin, Merve

HiC-DC+—Systematic 3D interaction calls and differential analysis for Hi-C and HiChIP

poster

Salas-Leiva, Dayana

A free-living protist with non-canonical DNA replication and segregation systems

poster

Salichos, Leonidas

Genetic determination of regional connectivity in modelling the spread of COVID-19 outbreak for improved mitigation strategies

poster

Salzman, Julia

SRNA splicing programs define tissue compartments and cell types at single cell resolution

poster

Sanborn, Adrian L

Simple biochemical features underlie transcriptional activation domain diversity and dynamic, fuzzy binding to Mediator

poster

Sanghi, Akshay

A chromatin basis for protein-RNA correlation in human cancer

poster

Santhanam, Natasha

The genetic architecture of genome-scale metabolic networks

poster

Sartori, Ambra

Extreme expression haplotypes revealed regulatory effects on gene expression linked to traits and footprints of positive selection

poster

Sasani, Thomas A

Discovery of a quantitative trait locus for the germline mutation rate in mice

poster

Schatz, Michael

Streamlining accessibility and computability of large-scale genomic datasets with the NHGRI genome data science Analysis, Visualization, and Informatics Lab-Space (ANVIL)

poster

Scheben, Armin

Unraveling molecular mechanisms of immunity and cancer-resistance using the genomes of two Neotropical bats

poster

Scheinfeldt, Laura

The NHGRI Sample Repository for Human Genetic Research—Publicly available biospecimens and a new genomic data search tool

poster

Scheller, Ines F

OUTRIDER2—A generalized framework for context-dependent outlier detection in omics data

poster

Schneider, Valerie A

NCBI Datasets—Get the genome-related data you want, the way you want

poster

Scholl, Suzy M

Genetic alterations in relation to pharmacological profiles in 10 cervical cancer cell lines

poster

Schubert, Olga T

Genome-wide survey of mutations influencing protein abundances in yeast

poster

Scott, Laura J

Single nucleus resolution chromatin profiling and RNA-seq in skeletal muscle across 287 individuals reveals differential DNA accessibility and gene expression by sex, age, and T2D-related traits

poster

Serna Duque, John Alberto

Evolutive and genomic history of a piscine host defence peptide—A new world for hepcidins in teleost fish

poster

Serrano, Isabel

Tissue-type and genotype influence mitochondrial somatic mutations in aging

poster

Sharma, Tripti

Generation of murine lineage tracing strains using CRISPR

poster

Shelansky, Robert

Add-Seq—A technique to investigate primary chromatin structure in single cells

poster

Shi, Alvin

Enhancer reprogramming in melanoma immune checkpoint therapy resistance

poster

Shulgina, Yekaterina

A computational screen for alternative genetic codes in over 250,000 genomes

poster

Sigalova, Olga

Quantitative analysis of the functional impact of genetic variation on transcription factor binding during embryogenesis

poster

Singh, Param P

Evolution of 'suspended animation' in the African killifish by remodeling ancient gene regulatory landscape

poster

Skob, Laurits

Genetic analysis of 17 Neandertals from two sites in the Altai mountains

poster

Smirnov, Dmitrii

Multi-omics integration increases the diagnostic rate of Mendelian disorders

poster

Smith, Cathy

Massively parallel minigene assays identify splice disruptive variants in human disease genes

poster

Sobreira, Debora

Pleiotropic phenotypic effects underlying the association of TCF7L2 and T2D in humans

talk

Song, Dongyuan

scPNMF—Sparse gene encoding of single cells to facilitate gene selection for targeted gene profiling

poster

Song, Mengyi

GATA4/5/6 family transcription factors are conserved determinants of cardiac versus pharyngeal mesoderm fate

poster

Sonmezer, Can

Molecular co-occupancy identifies transcription factor binding cooperativity in vivo

poster

Spangler, Abby

Identifying layer-specific gene expression using spatial RNA-seq on post-mortem human dorsolateral prefrontal cortex

poster

Spealman, Pieter

Transcriptional and translational dosage compensation of adaptive copy-number variants

poster

Staller, Max V

A simple and accurate predictor of transcriptional activation domains in the human proteome

poster

Stankiewicz, Kathryn H

Using the Astrangia poculata genome as a model for understanding cnidarian evolution and symbiosis

poster

Steenwyk, Jacob L

A gene coevolution network maps eukaryotic cellular and genomic organization, structure, and function

poster

Stoyko, Daniel

Characterization of piRNA 3’-ends

poster

Strober, Benjamin

Uncovering latent context-specific genetic regulation of gene expression from single-cell RNA-sequencing

poster

Sun, Na

Single-cell human-specific cerebrovasculature zonation in health and disease

poster

Sundaram, Vasavi

The landscape of regulatory mutations during chemical carcinogenesis

poster

Surm, Joachim M

Dominant toxin hypothesis—Disentangling the evolution of venom as a complex trait

poster

Tak, Esther

Genome-wide functional perturbation of GGAA microsatellite repeats using engineered zinc finger transcription factors

poster

Tan, Longzhi

Mapping the dynamics of the linear and 3D genome of single cells in the developing brain

poster

Tang, Lijing

Evidence for inter-individual variation of ERV de novo transposition rate in the male cattle germline

talk

Tanigawa, Yosuke

Atlas of sparse polygenic risk scores in UK Biobank

poster

Tarapcsak, Szabolcs

Model-based cancer therapy selection by linking genomic and transcriptomic tumor vulnerabilities to drug mechanism

poster

Taylor, Gunes

The role of FOXL2 in chicken primary gonadal sex determination

poster

Terlecki-Zaniewicz, Stefan

Interplay of oncogenic fusions and cellular context in sarcoma

poster

Theis, Fabian

Modeling cellular state and dynamics in single cell genomics

talk

Thibaud Nissen, Francoise

The NCBI tool suite for prokaryotic genomes—How RAPT, SKESA and PGAP can accelerate your research

poster

Thornton, Casey A

An atlas of glial chromatin accessibility in the human cortex and hippocampus

poster

Tomaszkiewicz, Marta

Unraveling isoform diversity of multi-copy ampliconic genes on the Y chromosomes in humans and other great apes

poster

Torres Ulloa, Leslie

Estimating the kinetics of mRNA 3’ end cleavage

poster

Torres-Sanchez, Maria

How to become a multi-host pathogen? Gene expression plasticity and molecular evolution of an amphibian panzootic pathogen

poster

Tran, Linh N

Inferring demographic history with supervised machine learning methods using allele frequency spectrum (AFS)

poster

Trigila, Anabella

Comparative genomics sheds light on mammalian and avian regulatory evolution

poster

Tripathy, Rohit K

Higher-order convolutions improve the performance of deep learning models for genomics

poster

Tuggle, Christopher

An immune cell atlas of porcine peripheral blood mononuclear cells—Transcriptomic heterogeneity revealed through combining bulk and single-cell RNA sequencing

poster

Urban, Lara

Quantitative genomic analyses support the conservation of the critically endangered kākāpō

talk

Varshney, Arushi

Single nucleus skeletal muscle chromatin and gene expression profiling across 287 individuals reveals cell type-specific genetic regulatory architectures at T2D GWAS loci

talk

Velten, Lars

Targeted Perturb-seq enables genome-scale genetic screens in single cells

talk

Veres, Adrian

Identifying genetic regulators of endocrine and beta cell in vitro differentiation via genome-wide loss-of-function screening

poster

Vernot, Benjamin

Human history from DNA in sediments

talk

Vierstra, Jeff

Connecting regulatory variants to target genes via genetically resolved RNA transcription and DNA accessibility

poster

Vinuela, Ana

Genetic analysis of blood molecular phenotypes reveals regulatory networks affecting complex traits—A DIRECT study

poster

Vollger, Mitchell R

Segmental duplications and their variation in a complete human genome

poster

von Maydell, Djuna

Deep learning spatial augmentation of single-cell transcriptomic data

poster

Wang, Anyou

Distinctive functional regime of endogenous lncRNAs in dark regions of human genome

poster

Wang, Daoming

Metagenome-wide structural variation analysis reveals a novel level of interaction between gut microbial genetics and human bile acid metabolism

talk

Wang, Xinxin

Haplotype screening method proved powerful in hidden variant testing in simulated multi-ancestry datasets

poster

Ware, Doreen H

Gramene 2021—Moving from a single reference genome to pan-genomes in plants

poster

Warren, Tracy

In vivo AAV-based transient enhancer-reporter assays in mouse brain

poster

Weissensteiner, Matthias H

The effect of alternative DNA structures on sequencing accuracy

poster

Wibisana, Johannes N

NF-κB mediated transcriptional regulation in B-cell

poster

Williams, Shelby

Comparative genomic analysis of novel metamonads shows progressive loss of mitochondrial function

poster

Wilson, Michael

Conserved NF-κB regulatory logic at accessible and inaccessible chromatin during the acute inflammatory response in mammals

poster

Winkley, Konner

Dissecting transcriptional and epigenomic responses to parental X-chromosome inactivation at the single-cell level

poster

Wooldridge, Brock

A shared regulatory allele of Agouti contributes to parallel evolution of cryptically colored beach mice

poster

Wright, Carter A

A role for chromatin remodeling in drug resistance in pancreatic cancer

poster

Wuennemann, Florian

CRISPR perturbations at many coronary artery disease loci impair vascular endothelial cell functions

poster

Xie, Bingqing

Template-based automated cell type assignment (TACA) for single-cell experiment cell type identification

poster

Xiong, Kun

Non-adaptive factors determine which equally effective regulatory motif evolves to generate pulses

poster

Xiong, Xushen

Genetic drivers of m6A methylation in human brain, lung, heart and muscle

poster

Xu, Qiaoji

Accuracy of reconstructed chromosomal gene order of early plant ancestors

poster

Yan, Koon-Kiu

Integrome signatures of lentiviral gene therapy for SCID-X1 patients

poster

Yan, Stephanie M

Local adaption and archaic introgression at human structural variant loci

talk

Yang, Jiekun