The Biology of Genomes
May 10 - 14, 2022

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 (in-person and virtual), and how to have your poster printed at CSHL for collection upon arrival. 

Abstract Status

Presenting Author

Abstract Title

Presentation

Abueg, Linelle

Workflows for reproducible high-quality genome assembly and evaluation in Galaxy

poster

Adamson, Brittany

Mapping the cellular determinants of genome editing in human cells

talk

Afeyan, Lena A

Genetic variation associated with condensate dysregulation in disease

poster

Afgan, Enis

How much will it cost? Estimates of cloud resource costs for genomics

poster

Aguilar Gomez, Diana

Evolution and genetics of the strawberry poison frog color polymorphism in Bocas del Toro

poster

Aguirre-Gamboa, Raul

Antigen-driven colonic inflammation and dysplasia in primary sclerosing cholangitis

poster

Alam, Aqsa S

Knowledge-based feature representation to discover the function of non-coding sequences.

poster

Albert, Frank W

Genetic variation in the ubiquitin system creates complex, pathway-specific effects on proteasomal protein degradation

talk

Alexander, Marcus

Genetics of glioblastoma metabolism

poster

Amariuta, Tiffany

Modeling tissue co-regulation to quantify tissue-specific contributions to disease heritability

poster

Amin, Alan N

A generative nonparametric Bayesian model for whole genomes

poster

Antonacci-Fulton, Lucinda

Human Pangenome Reference Consortium Coordinating Center

poster

Aquino, Yann

Genetic and evolutionary sources of population variation in immune responses to SARS-CoV-2

talk

Aracena, Katie A

Epigenetic variation drives ancestry-associated differences in the transcriptional response to influenza infection

poster

Ariad, Daniel

Inference of meiotic recombination events from a large sample of human embryos

talk

Avery, Randi R

Quantitative trait gene discovery by genome-wide reciprocal hemizygote scanning

poster

Ayroles, Julien

Studying adaptation to desert living and pastoralism in the Turkana

talk

Bae, Taejeong

Somatic mutations reveal hypermutable brains and are associated with neuropsychiatric disorders

poster

Baniadam, Hosna

Clustering of RAW SINGLE-CELL RNA-seq counts

poster

Barkdull, Megan

Genome-wide patterns of molecular evolution are influenced by sociality-associated traits across the ants

poster

Baron, Cantin

Shortest reactional distance between gene-metabolite pairs for annotation of mGWAS

poster

Batut, Philippe

Genome organization and noncoding transcription control timing of Hox gene expression during development

talk

Baud, Amelie

Genetic epidemiology to dissect the causal relationship between gut microbiome and drug abuse in outbred laboratory rats

poster

Behrens, Colby B

Dissecting the genetic and molecular basis of the evolutionary loss of paternal care in sticklebacks

poster

Ben Guebila, Marouen

BOA—Multiclass inference of gene regulatory networks

virtual poster

Berthelot, Camille

Reconstruction of hundreds of reference ancestral genomes across the eukaryotic kingdom

poster

Bird, Kevin A

Genomes in flux—Genomic rearrangements, subgenome dominance, and gene dosage balance constraints in resynthesized allopolyploid Brassica napus

poster

Black, Gage

Ibrutinib and acalabrutinib show similar patterns of clonal evolution over the course of chronic lymphocytic leukemia treatment

poster

Blundell, Jamie R

Fitness consequences and mutation rates of mosaic chromosomal alterations in clonal hematopoiesis

talk

Booeshaghi, Ali Sina

A commons cell atlas is algorithms, tools, and data

poster

Boukas, Leandros

Inference of natural selection on epigenetic marks—Implications for the evolution of germline mutation rates

poster

Boye, Carly

Characterization of caffeine response regulatory variants in vascular endothelial cells

poster

Boyko, Adam R

The hidden costs of inbreeding in domestic dogs

poster

Brajuka, Nadolina

Post-genome assembly decontamination and curation improves quality of reference genomes

poster

Brenner, Steven

The role of exome sequencing in newborn screening

virtual poster

Brotman, Sarah M

Adipose eQTL meta-analysis of 2,256 samples identifies conditionally distinct signals at cardiometabolic trait loci

poster

Brown, Brielin C

Multiset correlation and factor analysis enables exploratory analysis of multi-omic data

poster

Brunet, Marie A

The noise of silence—Functional annotation of non-canonical variants unveils hidden treasures in our genomes

talk

Burkhardt, David H

Specific and differential detection of breast and lung cancer via cfRNA

virtual poster

Calvet Riera, Ferriol

A universal protein-coding gene finder

poster

Catalan, Francisca

Dissecting the role of mobile elements and ERVs in shaping placental evolution and diversity with multiplexed scRNA and scATAC sequencing

poster

Chander, Varuna

Long-read sequencing and functional studies of AHDC1 contiguous deletions reveal a novel genetic regulatory mechanism in Xia-Gibbs syndrome

virtual poster

Chari, Tara

Biophysically informed modeling for mapping the effects of genetic and environmental perturbation on cell states

poster

Cheng, Nicholas

Profiling cell-free DNA methylation in plasma up to seven years prior to clinical detection reveals early signatures of cancer

talk

Chiou, Kenneth L

A comprehensive single-cell transcriptional and epigenomic atlas of the adult rhesus macaque brain

poster

Chitre, Apurva S

Exponential increase in QTL detection with increased sample size in heterogeneous stock rats

virtual poster

Chundru, Vignesh

Recessive burden analysis and gene discovery in ~40,000 developmental disorder trios with diverse ancestries

poster

Coll Macia, Moises

spaceNNtime—A neural network to predict the date and sampling location of ancient genomes

poster

Collado-Torres, Leonardo

Spatial transcriptomics analysis of Aβ-tau synergy in the inferior temporal cortex of the human brain in Alzheimer’s disease

poster

Costa Monteiro Moreira, Gabriel

On the repertoire of (pre)pachytene PIWI-interacting small RNA clusters, their transcripts-of-origin and the role of polymorphic transposable elements in the cattle germline

poster

Cote-L'Heureux, Auden E

Old genes in new places—A taxon-rich analysis of interdomain lateral gene transfer events

poster

Cristea, Simona

Breast cancer prevention by targeting TGFβ-responsive mammary epithelial progenitors

virtual poster

Crouse, Wesley

An extended fine-mapping framework to identify causal genes from transcriptome-wide association studies (TWAS)

virtual poster

Cuomo, Anna

Uncovering context-specific and dynamic genetic regulation of gene expression at single-cell resolution

talk

Dann, Emma

Mapping the developing human immune system across organs

talk

Das, Maitreya

Direct assessment of impact of transcription factors on enhancer activity

poster

Das, Ranajit

Genomic variation underlies the severity of COVID-19 clinical manifestation

virtual poster

Das, Sankha Subhra

Identification of Native American ancestry-correlated cardiometabolic and serum metabolite traits

poster

Dashnow, Harriet

Exploring known and novel short tandem repeat variation in thousands of diverse genomes

poster

Daunesse, Maelle

Extensive characterisation of mitochondrial genomes in chemically induced mouse liver tumours

poster

De La Vega, Francisco M

Genetic ancestry correlates of the somatic mutational landscape from tumor profiling data of 50,000 cancer patients

poster

de Manuel, Marc

A paternal bias in germline mutation is widespread in amniotes and can arise independently of cell divisions

talk

de Oliveira, Thais C

Constructing new and improved platform for data sharing in The Brazilian Initiative on Precision Medicine (BIPMed)

virtual poster

Degner, Jacob F

Estimating colocalization probability from limited summary statistics

poster

Desai, Michael M

Barcoded bulk QTL mapping in budding yeast

talk

Dilanyan, Taleen

Open-source customizable beads for single-cell transcriptomics

poster

Domingo, Julia

Gene dosage modulation reveals the dynamics of blood traits-associated transcriptional regulatory networks

poster

Duncan, Andrew

Evaluating enhancer sequence rules in mouse embryonic stem cells using predictive models of gene expression

poster

Dupuis, Theo

Non-additive outlier effects of gene expression on anthropometric traits

virtual poster

Dutcher, Auguste

Gene over-expression complements aneuploidy sensitivity in a wild yeast model

poster

Dutrow, Emily

Identifying genetic drivers of canine diversity reveals the neurodevelopmental origins of breed-typical dog behaviors

poster

Einson, Jonah

Genetic control of mRNA splicing is affected by purifying selection, with exon properties and downstream protein structure as potential drivers

poster

Erwin, Graham S

A genome-wide atlas of recurrent repeat expansions in human cancer

poster

Esposito, Roberta o

Tumour mutations in long noncoding RNAs enhance cell fitness

talk

Fan, Jean

Multi-scale computational analysis of spatially resolved transcriptomic imaging data

talk

Fang, Meichen

Towards valid pseudotime-based inference in single-cell transcriptomics

poster

Farley, Emma

Affinity-optimizing enhancer variants disrupt development and drive disease

talk

Farrell, Andrew

NeoSeq—Comprehensive detection of disease causing variants in critically ill newborns using both kmer-based and traditional methods

talk

Feng, Xiaowen

Metagenome assembly of high-fidelity long reads with hifiasm-meta

virtual poster

FitzPatrick, Vincent D

Defining the fine structure of promoter activity on a genome-wide scale with CISSECTOR

poster

Flynn, Peter J

Exploring the unprecedented diversity and co-evolutionary patterns within the ant virosphere.

talk

Foley, Nicole

Karyotypic stasis and swarming influenced the evolution of viral tolerance in a large bat radiation

poster

Frankish, Adam

Improving reference gene annotation for human and mouse in GENCODE

poster

Fritz, Adrian W

Critical assessment of metagenome interpretation—The second round of challenges

poster

Ryan Friedman

Active machine learning to improve predictions of cis-regulatory activity

poster

Galvez Merchan, Angel

A human commons cell atlas reveals cell type specificity for OAS1 isoforms

poster

Gamache, Isabel

Effect of variation in the proportion of CETP isoforms on phenotypes

poster

Gazal, Steven

Zoonomia constraint scores are uniquely informative for human diseases and complex traits

poster

Georges, Stephanie

Examining subclone evolution and copy number variation in Oncogene.iobio

poster

Gerstung, Moritz

Reconstructing cancer evolution using spatial genomics

talk

Ghotra, Rohan S

Uncovering motif interactions from convolutional attention networks for genomics

virtual poster

Gilmore, Rachel B

Investigating ZNF274-mediated repression of maternal 15q11-q13

poster

Goodarzi, Hani

Revealing the RNA sequence and structural code that governs RNA splicing programs

talk

Gopalan, Shyamalika

Investigating Plasmodium vivax biology using integrated epidemiological and genomic models

poster

Grimes, Karen

Measuring the impact of somatic mosaic structural variation on human blood lineages using single-cell multiomics

poster

Grimes, Seraj

Applying tissue-specific epigenetic annotations to improve and interpret polygenic risk scores

poster

Guigo, Roderic

The Catalan Initiative for the Earth Biogenome Project (CBP)—Engaging the community in the genome biodiversity projects

poster

Gumerov, Vadim

From chemotaxis to nervous systems—A universal amino acid binding receptor

poster

Gupta, Akshi

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

virtual poster

Hammell, Christopher M

lin-4 functions as a temporal morphogen

poster

Harmer, Zack

Multiplexing optogenetic signals in yeast for the dynamic control of biological networks

talk

Harpak, Arbel

Decomposing polygenic scores to direct genetic effects versus other factors

talk

Harringmeyer, Olivia

Massive inversion polymorphisms shape the genomic landscape of the deer mouse

talk

Harripaul, Ricardo S

Neuronal tissue-specific analysis converges on the peripheral nervous system as a key driver in features of familial dysautonomia

poster

Harris, Andrew J

Tree House Explorer—A novel genome browser for phylogenomics and phylogeography

poster

Harwood, Michelle P

Recombination and population demographics impact allele-specific-expression of deleterious variants among human populations

poster

He, Zitong

Prediction of Alu exonization events with a deep learning model

poster

Holbrook, Joanna D

Accurate simultaneous sequencing of genetic and epigenetic bases in DNA

poster

Hou, Huayun

Implementing whole blood RNA sequencing for diagnosis of Mendelian diseases in pediatric patients

talk

Huang, Xingfan

Single cell, whole embryo phenotyping of pleiotropic genetic disorders of mammalian development

talk

Huang, Yi-Fei

A deep learning framework for predicting human essential genes from population and functional genomic data

poster

Hudaiberdiev, Sanjarbek

Hyperactive loci at cores of 3D chromatin hubs and transcriptional condensates

poster

Huuki-Myers, Louise A

Data driven identification of total RNA expression genes “TREGs” in snRNA-seq and application in RNAscope

poster

Iida, Keita

ASURAT clusters single-cell transcriptomes through multifaceted biological aspects

poster

Ionescu, Danny

Peer Community in Genomics—A free, transparent, alternative to evaluate, validate, (and publish!) preprints in genomics

poster

Ionescu, Danny

A link between cell structure and genomics in the genus Achromatium

talk

Jain, Pritesh R

Polygenic risk scores based on European GWAS correlate to disease prevalence differences around the world

poster

Jamsandekar, Minal

The evolution of four chromosomal inversions underlying ecological adaptation in Atlantic herring using long-read sequencing

poster

Jeong, Raehoon

Colocalization of blood cell traits GWAS associations and variation in PU.1 genomic occupancy prioritizes causal noncoding regulatory variants

poster

Jiang, Clara

From heart to brain—Leveraging transcriptomic and genomic data to investigate the anti-depressive effects of statins

virtual poster

Johnson, Kelsey E

Multi-omics analyses of human milk reveal effects of milk composition on the infant gut microbiome

talk

Johnson, Zachary

Neurogenetic substrates of bower construction behaviors in Lake Malawi cichlids

poster

Jones, Andrew

Alignment of spatial genomics and histology data using deep Gaussian processes

talk

Katsevich, Eugene

SCEPTRE improves calibration and sensitivity in single-cell CRISPR screen analysis

poster

Katz, Laura

Analyses of nuclear and genome features in Foraminifera expand our understanding of the ‘rules’ of eukaryotic life

talk

Keitley, Daniel

Whole-embryo scale comparison of rabbit and mouse gastrulation at single-cell resolution

poster

Kellis, Manolis

Single-cell multi-region dissection of brain vasculature in Alzheimer’s disease

poster

Kelly, Marcus R

Interpretation of cancer mutations using a multiscale map of protein systems

talk

Khamseh, Ava

TL-GWAS removes unnecessary assumptions and model dependencies from population genetics analysis

virtual poster

Kocher, Sarah

Convergent selection on hormone signaling shaped social evolution in bees

talk

Koesterich, Justin

Leveraging massively parallel reporter assays for characterizing non-coding regulatory variation in autism

poster

Kong, Yimeng

Critical assessment of DNA adenine methylation in eukaryotes using quantitative deconvolution

poster

Kravitz, Stephanie

Random allelic expression in the human body

talk

Kreimer, Anat

Massively parallel reporter perturbation assay uncovers temporal regulatory architecture during neural differentiation

talk

Kucher, Natalie

Cloud-scale training and education with Galaxy in the NHGRI Analysis, Visualization, and Informatics Lab-space (AnVIL)

poster

Kundu, Soumya

Prioritizing functional non-coding genetic variants in colorectal cancer GWAS loci using cell-type resolved deep learning models of chromatin accessibility

talk

Kunes, Russell

Genome scale estimation and transfer learning of latent gene expression programs in single-cell data with SPECTRA

poster

Kunisaki, Jason

Leveraging duplex DNA sequencing to explore the link between mutation rates, sperm selection, and male fertility

poster

Lapointe, Xavier

Pseudogenization—An overlooked model of gene evolution

poster

Lea, Amanda

Diverse environmental perturbations reveal the evolution and context-dependency of genetic effects on gene expression levels

poster

Lemmon-Kishi, Maya

A penalized likelihood approach for estimating haplotypes from environmental DNA

poster

Li, Jin

Single cell atlas of the human retina

poster

Li, Xiaoting

Identifying genetic regulatory variants that affect transcription factor activity

talk

Li, Xue

Investigating the genetics of social behaviors in wolf-dog hybrids

poster

Li-Byarlay, Hongmei

Epigenomic insights underlying honey bee aggression behavior

virtual poster

Lindblad-Toh, Kerstin

Comparative genomics with 240 mammals offers powerful new insight into mammalian genome evolution and human disease

poster

Linder, Johannes S

Interpreting cis-regulatory polyadenylation variants with residual neural networks and attention masks

talk

Liu, Shiwei

Detection of copy number variations contributing to drug resistance using Nanopore long reads and illumina short reads in Plasmodium falciparum

poster

Liu, Yaping

GTAGMe-seq—Joint profiling of genetic variants, DNA methylation, GpC methyltransferase footprints, and 3D genome in single molecules

poster

Loell, Kaiser

Activation domains can decouple the mean and noise of gene expression

talk

Lohia, Ruchi

A global high-density chromatin interaction network reveals functional long-range and trans-chromosomal relationships

virtual poster

Loving, Rebekah K

Efficient full-length and long-read RNA-seq quantification

virtual poster

Lowther, Chelsea

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

talk

Loytynoja, Ari

Drastic mutations can be hidden in short-read mapping—Thousands of human mutation clusters are explained by short-range template switching

poster

Lu, Tsung-Yu

The motif composition of variable-number tandem repeats impacts gene expression

poster

Luo, Yang

A FLOT1 host regulatory allele is associated with a recently expanded Mtb clade in tuberculosis case individuals

virtual poster

Ma, Jilong

Social evolution of the spider genus Stegodyphus

virtual poster

Machado, Heather

Diverse mutational landscapes in human lymphocytes

poster

Mahoney, Rebecca

Using cellular deconvolution to investigate cell subtype proportions in cortical gene expression data in schizophrenia

poster

Majdandzic, Antonio

Correcting off-manifold noise in input gradients for black box models

poster

Malawsky, Daniel

Influence of autozygosity on disease risk across the phenotypic spectrum

poster

Manders, Freek

Mutation accumulation and copy numbers in mitochondria in both health and disease

poster

Mao, Yafei

The punctuated evolution of structural variation across the primate order

virtual poster

Martorella, Molly

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

poster

Maurer-Alcala, Xyrus X

Exploring the evolution of lineage-specific gene families in microeukaryotes

poster

Maurizio, Paul L

Dynamic genetic control of the gene expression response to Mycobacterium tuberculosis infection in human macrophages

poster

McCoy, Matthew J

Gene size expansion during nervous system evolution

poster

McManus, Justin N

A unifying statistical framework to discover disease genes from GWAS

poster

Medini, Hadar

Immune system cells from COVID-19 patients display compromised mitochondrial-nuclear expression co-regulation and rewiring toward glycolysis

poster

Melsted, Pall

Kmuxlet—Demultiplexing single cell RNA sequencing experiments in minutes on a laptop

poster

Meyerson, Matthew

Ancestry, germline risk, and somatic mutation in human lung cancer

poster

Milind, Nikhil

Multi-omics integration to characterise mechanisms of molecular QTL from a sepsis cohort

poster

Minto, Melyssa S

Bioinformatic investigation of Zic family of transcription factors in the mature cerebellum

poster

Moin, Abu Tayab

Identifying multiple proteasome 26S subunit, ATPase (PSMC) family genes as the prognostic indicators in lung adenocarcinoma

virtual poster

Moreau, Corrie

Complex traits and the microbiome in insects

talk

Morrill, Kathleen

Genomic interrogation of cultural stereotypes connecting dog breed and behavior

poster

Morris, John A

Systematic targeting and inhibiting of noncoding GWAS loci with single-cell sequencing

talk

Mosher, Stephen L

A unified computing environment for genomics data storage, management, and analysis—NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-Space (AnVIL)

poster

Mostafavi, Hakhamanesh

Why most GWAS hits are not eQTLs

poster

Mostefai, Fatima

Computational methods for tracking intra-host mutational patterns in over 120,000 SARS-CoV-2 samples

poster

Munro, Daniel B

Characterizing the transcriptional regulatory landscape of multiple brain regions in outbred heterogeneous stock rats

poster

Nakatsuka, Nathan J

Genetic evidence for ancient population shifts and migrations in Central and Southern California

poster

Nanda, Arjun S

Cell-resolved single-molecule sequencing of primary DNA templates

poster

Neavin, Drew

It takes a village—Population-scale studies in stem cells

poster

Nepper, Julia F

The antibiotic zwittermicin stimulates biofilm formation in a model rhizosphere community

poster

Nguyen, Thanh Thanh L

Glucocorticoids unmask silent non-coding genetic risk variants for common diseases

poster

Nirmalan, Shreya

Mother-child conflict is associated with cell-type specific gene expression in children with asthma

virtual poster

Nyasimi, Festus

Genetically predicted metabolite levels identify candidate pathways for common diseases

poster

Oliva, Meritxell

Identification of host genes associated with COVID-19 risk and severity by trans-layer multi-omics analysis

poster

Orenbuch, Rose

New generative deep models identifying rare and common disease-variants

poster

Osipova, Ekaterina

Loss of a key muscle gluconeogenic enzyme contributed to the evolution of adaptive metabolic traits in hummingbirds

talk

Ouellette, Tom

Unraveling subclonal dynamics in sequenced tumour biopsies using deep generative models

poster

Pachter, Lior

Mathematical foundations for developmental and single-cell genomics

talk

Pai, Athma A

Noise to signal—Exploring the landscape of cryptic splicing

poster

Park, Christopher

Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk

poster

Peck, Lily

Fifty years of emergence and divergence of a Fusarium coffee wilt disease

virtual poster

Peree, Helene

Towards identifying novel eQTLs driving inherited predisposition to IBD in 22 distinct circulating immune cell populations

poster

Perez-Lluch, Silvia

Slower B cell transdifferentiation in human than in mouse is the by-product of the human specific Alu-repeat expansion

poster

Phan, Lon

NCBI ALFA Release 2 for 900 million variants and allele frequency from 200 thousand dbGaP subjects

poster

Phillips, Robert A

Temporally specific gene expression programs regulate activity-dependent chromatin remodeling at genomic enhancers in striatal neurons

poster

Pinello, Luca

Human genetic diversity alters therapeutic gene editing off-target outcomes

poster

Pinello, Luca

SIMBA—SIngle-cell eMBedding Along with features

poster

Polidori, Taisia

Multi-hallmark long noncoding RNA maps reveal non-small cell lung cancer vulnerabilities

poster

Popp, Joshua

Human embryoid bodies reveal dynamic genetic regulation in diverse differentiation trajectories

talk

Pritykin, Yuri

Genome-wide CRISPR guide RNA design and specificity analysis with GuideScan2

poster

Qin, Yue

A multi-scale map of cell structure fusing protein images and interactions

poster

Randolph, Haley E

Common genetic variants modulate the immune response to SARS-CoV-2 infection in a cell type-specific manner

poster

Rangwala, Sanjida

Comparative genomic visualization at NCBI

poster

Rao, Yiyun

MutSigCVsyn—Identification of thirty synonymous cancer drivers

poster

Raza, Qasim

Genomic atlas of Dof family across genus Oryza

virtual poster

Raza, Yasrab

Understanding changes to genetic regulation of gene expression over time

poster

Reeves, Adam

Evolution of diapause in the African turquoise killifish by remodeling ancient gene regulatory landscape

talk

Reilly, Steven K

Detecting the functional consequences of recent human selection

poster

Reynisdottir, Tinna

Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2

poster

Riera, Meritxell

Evolutionary consequences of differential expression in X and Y carrying gametes during primate spermatogenesis

poster

Rimoldi, Martina

DNA methylation patterns of transcription factor binding regions characterize their functional and evolutionary contexts

poster

Rivas-Gonzalez, Iker

Pervasive incomplete lineage sorting illuminates speciation and selection processes in primates

talk

Rochefort-Boulanger, Camille

Deep learning on genetic data with Diet Network and its application to a complex phenotype

poster

Romanovskaia, Daria

Comparative analysis of DNA methylation across more than 500 animal species

poster

Rostami, Mahboubeh

Assessment of genetic variation affecting intensive care unit drug responses in the Qatari population

poster

Roth, Charlotte

Unravelling the role of chromatin modifiers in human neurodevelopment—Observations from Kabuki syndrome

poster

Roy, Ananya

Leveraging non-coding mutations and evolutionary constraint to discover novel driver mutations in brain tumors

poster

Rozowsky, Joel

Integrative tools for the analysis of allele-specific behavior using the EN-TEx resource

poster

Saarenpaa, Sami

Unveiling spatial host-microbe interactions by Spatial metaTranscriptomics

talk

Saini, Supreet

Role of gene flow in dictating the adaptive response, and reproductive barriers in yeast

virtual poster

Santhanam, Natasha

Polygenic transcriptome risk scores (PTRS) transfers PRS across species

virtual poster

Schatz, Michael

Dissecting the dynamic evolution of paralogs in shaping trait variation across the Solanum Pan-Genome

poster

Scheinfeldt, Laura

The NHGRI Sample Repository for Human Genetic Research

virtual poster

Schneider, Valerie A

The NIH Comparative Genomics Resource—Amplifying the biology of genomes

poster

Schraivogel, Daniel

Functional genomics screens with high-speed image-enabled cell sorting

poster

Serrano, Isabel

Mitochondrial haplotype and mito-nuclear matching drive somatic mutation and selection through aging

talk

Session, Adam M

Analysis of k-mers allows identification of vertebrate subtelomeres, and reveals unique dynamics of amphibian chromosome evolution

poster

Sherwood, Richard

Systematic elucidation of genetic mechanisms underlying cholesterol uptake

poster

Shew, Colin

Dissecting mechanisms underlying expression divergence of human duplicated genes

poster

Shore, Christopher

Genetic impacts on the skin methylome in healthy older twins

poster

Shultz, Riley R

Not haploid after all—The costs and benefits of endoreplication as a mechanism of dosage compensation in honey bee drones

poster

Singh, Amartya

Inferring genotype, phenotype, and clinical relationships with single-cell biclustering

poster

Sinnott-Armstrong, Nasa

Biochemical pathways ground the molecular interpretation of pleiotropy in complex traits

talk

Skead, Kimberly

A multi-omic perspective of how selection shapes blood cancer risk phenotypes in aging populations

poster

Sounart, Hailey E

Dual spatially resolved transcriptomics for SARS-CoV-2 host-pathogen colocalization studies in humans

poster

Spencer, William C

Reorganization of postmitotic neuronal chromatin accessibility for maturation of serotonergic identity

poster

St. Pierre, Celine L

Sequence and parent-of-origin dependent allele-specific methylation patterns vary across metabolic tissues and environmental contexts

poster

Sullivan, Delaney K

SplitCode—Flexible, efficient parsing and preprocessing of technical sequences in sequencing reads

poster

Sun, Sarah J

BCG vaccination impacts the epigenetic landscape of progenitor cells in human bone marrow

poster

Suvakov, Milovan

Detection of subcolnal CNAs in cancer WGS data using CNVpytor

poster

Szabo, Elizabeth

Functional analysis of variants of uncertain significance in the MSH6 mismatch repair gene

poster

Tang, Lijing

Large-scale quantification of de novo transposition rate of endogenous retroviruses in cattle germline for the identification of loci underlying population variation

poster

Tang, Ziqi

Evaluating deep learning for predicting epigenetic profiles

poster

Tanigawa, Yosuke

Single-cell transcriptional hallmarks of Alzheimer’s disease across 427 individuals

poster

Tarapcsak, Szabolcs

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

poster

Tautz, Diethard

Studying sex-biased gene expression and alternative splicing at a microevolutionary scale in natural populations and subspecies of house mice

poster

Taylor, Dylan

Uncovering sources of human gene expression variation in a globally diverse cohort

poster

Teng, Shaolei

Computational analysis of the effects of ACE2 mutations on protein stability and binding affinity with SARS-CoV-1 and SARS-CoV-2 spike proteins

poster

Teng, Shaolei

Computational saturation mutagenesis of Myeloperoxidase proteins

poster

Timmons, Caitlin

Combining phylogenomics with synthesis of nuclear cycle data from the literature suggests that LECA had an unstable genome marked by variable karyotypes and driven by genomic conflict

poster

Tomlinson, Max

Pinpointing the early molecular markers of lipid dysregulation using transcriptomics and phenotyping

poster

Traniello, Ian M

Evolution of decreased aggression in honey bees targeted brain cell gene regulatory networks

poster

Tripathy, Rohit K

Towards trustworthy explanations with gradient-based attribution methods

poster

Tung, Jenny

The evolutionary dynamics of hybridization and admixture in wild baboons

talk

Tycko, Josh

Systematic identification of context- and genetic-dependencies for human transcriptional effectors

poster

Upadhyai, Priyanka

Elucidation of the molecular role of IFT52 associated with a novel skeletal ciliopathy using in vitro and Drosophila systems

virtual poster

Ursu, Oana

Structural and functional properties of mSWI/SNF chromatin remodeling complexes revealed through single-cell perturbation and genomic profiling

virtual poster

Van Dyke, Krisna J

Trans-acting genetic variation affects the expression of adjacent genes

poster

Vazquez, Juan M

Evolution of non-allometric longevity in a clade of long-lived bats resolved using chromosome-length genome assemblies

poster

Vazquez-Garcia, Ignacio

Genomic instability as a determinant of immune escape in ovarian cancer

talk

Vilgalys, Tauras P

Natural selection on immune genes during the Black Death

talk

Vitsios, Dimitrios

OncMTR—Cancer-driving mutations are enriched in genic regions intolerant to germline variation

virtual poster

Wang, Lili

Multivariate association testing on gene modules improves the power of trans-eQTLs detection

poster

Wang, Yifan

Somatic deletions and loss of heterozygosity are associated with brains from autism spectrum disorder patients

poster

Wang, Zihua

Accurate measurement of microsatellite length by disrupting its tandem repeat structure

poster

Ward, Alistair N

Calypso—W web software system supporting team-based, longitudinal genomic diagnostic care

poster

Watowich, Marina M

Natural disaster is associated with differential DNA methylation in immune cells of rhesus macaques

poster

Wei, Julong

scATAC-seq reveals genetic regulatory mechanisms of dynamic eQTLs

poster

Weinstein, Eli N

Variational synthesis for biomolecule design

poster

Weith, Matthias

Explaining complex phenotypes with network states

virtual poster

Wigdor, Emilie

Investigating the contribution of common variants to neurodevelopmental disorders—Expression-modifying variants and polygenic scores

poster

Williams, Marc

Scaled single-cell whole-genome sequencing reveals the hidden cell-to-cell genomic variation in cancer genomes

poster

Williams, Nikola

Using deep whole genome sequencing data to investigate somatic mutations and CHIP in CEPH individuals

poster

Xiong, Xushen

Single-cell ATAC dissection across Alzheimer's disease cohort pinpoints causal GWAS variants and reveals epigenome erosion

poster

Xu, Duo

Recapitulating patient-specific regulatory networks for hundreds of primary cancer samples reveals differential enhancer usage and novel therapeutic targets

virtual poster

Xue, James R

The functional and evolutionary impacts of human-specific deletions in conserved elements

poster

Young, Soleil E

Examining the nuclear architecture of a host restricted nutritional fungal mutualist

poster

Zajac, Cynthia K

Understanding caudal developmental abnormalities using single-nuclei atac-seq data from wild type and danforth’s short tail mouse tailbuds

poster

Zhang, Xinru

Transcription factor binding sites are frequently under accelerated evolution in primates

poster

Zhao, Fangwen

Chromatin profiling uncovers the gene-regulatory landscape underlying diverse monogenic antibody deficiencies

poster

Zhong, Guojie

Integration of gene expression data in Bayesian association analysis of rare variants

poster

Zhou, Jessica

Single-cell sequencing of rat amygdala reveals cell type-specific transcriptomic and epigenomic mechanisms underlying cocaine addiction

virtual poster

Zhu, Carrie

Amplification is the primary mode of gene-by-sex interaction in complex human traits

poster

Zou, Luli S

Detection of allele-specific expression in spatial transcriptomics with spASE

poster