Biology of Genomes
May 6 - 10, 2025

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

Abebe, Bethlehem

Expression and isolation of the Map3 pheromone receptor from yeast for structural and genetic studies

poster

Adeluwa, Temidayo

TFXcan reveals transcriptional programs driving complex traits and diseases

poster

Ahituv, Nadav

Functional characterization of gene regulatory elements

talk

Albinana, Clara

Biobank-scale multi-omic modelling of circadian disruption

poster

Alkhawaja, Abdalla A

Integrated analysis of liver cell-type QTL with bulk tissue reveals mechanisms of complex traits

poster

Almassalha, Luay

TADs and loops are impossible objects

poster

Amin, Atia

Genomic flexibility through extrachromosomal amplicons—A Leishmania survival strategy

poster

Amorim, Ana Beatriz Silva

Overcoming challenges in tropical archaeogenomics—A case in early colonial interactions and indigenous enslavement in the Spanish colonized Caribbean

poster

Amos-Abanyie, Ernestine K

mtDNA signatures of sex-biased admixture in European-Africans from mid-South US

poster

Aninta, Sambina Islam

Variant position modulates functional impact in massively parallel reporter assays

poster

Aqil, Alber

Switch-like gene expression modulates disease risk

poster

Arabzadeh, Mona N

Advancing scRNA-seq analysis—A new paradigm for graph-partitioning and cluster refinement enables identification of novel malignant cell signatures linked with resistance to immune checkpoint blockade treatments

poster

Arabzadeh, Mona N

Distinct monoallelic expression signatures characterize unclassified breast tumors and associate with patient genetic backgrounds

poster

Arndt, Peter F

A new Bayesian method to perform demographic inference from genomic data

poster

Arner, Audrey M

Exploring the genomic underpinnings of evolutionary mismatch

poster

Atkins, Thomas K

Dysregulation of cellular signaling networks upon rapid environment shift

poster

Audano, Peter

New assembly-based methods for detecting large complex structural rearrangements in human genomes

talk

Ayano, Betselot Z

Comprehensive phylogenomic analysis of mycobacterium tuberculosis in Ethiopia

poster

Azidane, Sara

From genomics to neuroanatomy—How CNVs contribute to risk of neurodevelopmental disorders and brain structure alterations

poster

Bajwa, Ayesha

Estimating gene mean pathogenicity with prediction-powered inference

poster

Balachandran, Parithi

Revealing the extensive allelic heterogeneity and impact of transposable elements across 130 diverse human haplotypes

poster

Bao, Zhigui

Understanding mutational processes from Arabidopsis pangenome graphs

talk

Barbosa, Vanessa de Araujo

From milk to microbes—A targeted sequencing approach to dairy cattle health

poster

Belyeu, Jonathan R

Visualize complex structural variants in HiFi data with SVTopo

poster

Benjamin, Kynon J

RFMix-reader—Accelerated reading and processing for local ancestry studies

poster

Boldon, Naomi

The role of maternal choline supplementation on offspring behavioral outcomes and gene accessibility in the frontal cortex

poster

Bono, Hidemasa

Functional annotation workflow for genome editing of novel model organisms

poster

Brassington, Layla

Understanding how urban, industrialized lifestyles modulate the immune response in the Orang Asli of Malaysia

poster

Bresnahan, Sean T

Long-read assembly of the placenta transcriptome reduces inferential uncertainty and unveils novel isoforms associated with gestational diabetes mellitus

poster

Brill, Eva

Chromatin profiling from formalin-fixed paraffin-embedded samples for biomarker discovery

poster

Broad, Mia

POISEN—A bioinformatics pipeline to identify poison exons in long-read transcriptomes

talk

Brown, Noah J

Characterizing extrachromosomal DNA in the malaria parasite and its relationship to chromosomal copy number variations

poster

Byun, Seyoun

Molecular QTL analysis of expression, splicing, and chromatin accessibility in human chondrocyte identify novel putative osteoarthritis risk genes

poster

Calabrese, Mauro

Discovery of RNA domains that harbor related functions using hmSEEKR

poster

Cao, Yuwei

Identification of optimal experimental conditions by establishment of single-pot automated (SPA)-ChIP-seq

poster

Carey, Clayton

MIC-Drop-seq—Scalable genetic screening of vertebrate development with cellular resolution

talk

Carilli, Maria

Estimating cis and trans contributions to differences in gene regulation

poster

Carioscia, Sara A

Common variation in core meiosis genes shapes human recombination phenotypes and aneuploidy risk

poster

Carter, Ava C

FOS binding sites are a hub for the evolution of activity-dependent gene regulatory programs in human neurons

talk

Chakraborty, Atreyi

A genome-wide in-silico motif scan to identify functional clustering

poster

Chantzi, Nikol

Characterization of hairpin loops and cruciforms across 118,065 genomes spanning the tree of life

poster

Chapman, Margaret

Ancient gene deserts and conserved microsynteny surrounding mammalian neurodevelopmental genes

poster

Chen, Bide

Long-read de novo assembly and comparative analysis of six howler monkey genomes within genus Alouatta

poster

Chen, Nancy

Dynamics of inbreeding and gene flow in a pedigreed wild population of Florida Scrub-Jays

talk

Cheng, Haoyu

Efficient telomere-to-telomere assembly of ONT simplex reads using hifiasm (ONT)

poster

Chetty, Ashwin

Widespread effects of medications on gut microbiome composition and function

talk

Choi, Eunice

Foxo1 regulates intestinal tissue-resident memory CD8 T cell biology in an anatomic compartment- and context-specific manner

poster

Chou, Elysia

Prioritizing noncoding variant-gene pairs in psoriasis using coupled matrix-matrix completion

poster

Ciccarelli, Francesca

Spatial drivers of response to cancer immunotherapy

poster

Clark, Nathan

History repeats itself—Comparative genomics reveals new genes underlying convergent changes in vision, hair, and sperm locomotion

talk

Cohen, Alanna B

Deciphering the autism-associated gene regulatory landscape

poster

Colantoni, Alessio

Reference-quality genomes of human cell lines for precision omics

poster

Colbran, Laura L

Global patterns of natural selection inferred using ancient DNA

talk

Cooperstein, Isabelle B

SimPheny—Integrating large-scale genomic and phenotypic data for rare disease variant prioritization

poster

Cortes, Miguel

Transcription start sites experience a high influx of heritable variants fuelled by early development

poster

Costa, Christina E

Genetic effects on the transcriptional response to immune challenge in the rhesus macaque

poster

Das, Arun

Assembling unmapped reads reveals missing variation in South Asian Genomes

poster

Das, Jishnu

Sliding Window INteraction Grammar (SWING)—A generalized interaction language model for peptide and protein interactions

poster

Das, Jishnu

Uncovering novel cellular programs and regulatory circuits underlying bifurcating human B cell states

poster

de Boer, Carl G

Modeling the evolution of gene regulatory complexity and its role in complex disease

talk

de Lima Adam, Carolina

A genome-wide view of Tandem Repeat variation in humans and chimpanzees

poster

DeGroat, William B

Constructing cell type-specific enhancer-promoter regulatory interaction networks with massively parallel reporter assays

poster

Dekovich, Allyson M

Genomic analyses of hybrids indicate chromosomal inversions maintain genetic differences between fire ant species Solenopsis invicta and S. richteri

poster

Diaz-Papkovich, Alex

One year after the All of Us Research Project—Reflections on visualizing human genetic data in biobanks

poster

Dodge, Tristram O

Origin and maintenance of a shared sexual mimicry polymorphism

poster

Dohlman, Anders

An EGFR hotspot mutation interacts with RBM10 to influence lung cancer risk in East Asians

talk

Downie, Alexander E

Disentangling genetic and phenotypic responses to selection in the body mass of wild Kalahari meerkats

talk

Dudek, Max F

Greater overlap of caQTLs than eQTLs with GWAS-implicated genes

poster

Durak, Muhammed Rasit

The shifting tempo of evolution—Mapping heterotachy across the tree of life

poster

Eskut, Kaan Ihsan

Evolutionary insights from germline-specific chromosomes of lamprey and hagfish genomes

poster

Evrony, Gilad

Advancing the fidelity and speed of somatic mutation detection

talk

Eynard, Sonia

Genetic and epigenetic selection signatures from pool sequencing experiment

poster

Fang, Lingzhao

The Farm Animal Genotype-Tissue Expression (FarmGTEx) Project

poster

Ferguson, Scott

T2T primate genomes reveal 60 million years of structural variation and karyotype evolution

poster

Field, Matt A

Detecting rare somatic cell type specific driver mutations in autoimmune disease using single-cell multi-omic technologies

poster

Forson, Kwesi

Compensatory copy number variations in the malaria parasite genome reveal metabolic interplay between antimalarial targets

poster

Founta, Kyriaki

Ancestry-driven methylation differences impact immune function regulation in breast cancer

poster

Francoeur, Eden R

Segmental duplication-mediated rearrangements alter the landscape of mouse genomes

poster

Frasier, Connor P

Multi-omic genomic mapping with long read sequencing

poster

Frayer, Megan

Repeated evolution of reproductive isolation in a monkeyflower species complex

poster

Freed, Donald

Hybrid short and long-read sequencing affordably enhances genome characterization in difficult regions

poster

Fuxman Bass, Juan I

Global cis-regulatory landscape of double-stranded DNA viruses

poster

Gaitan, Nicolas G

Anonymized somatic tumor twins (STTs) for open data sharing in cancer genomic research

poster

Galante, Pedro

PreciseCaller—A comprehensive, scalable, user-friendly and open-source platform for genomic variant detection in oncology and precision medicine

poster

Garcia Gonzalez, Judit

The gene expression landscape of disease genes

poster

Garrison, Erik

Reference-free, haplotype-resolved nomination of CRISPR off-targets across global and individual genomic diversity

poster

Garske, Kristina M

Detection of early metabolic stress mechanisms driving risk for cardiometabolic disorders in an urban-transitioning Kenyan population

poster

Gee, Devin

Characterizing genetic ancestry associated variation in Lynch syndrome genes

poster

Georgakopoulos-Soares, Ilias

The repertoire of short tandem repeats across the tree of life

poster

Georges, Stephanie

Discovering low-frequency somatic mutations in a craniofacial microsomia patient using RUFUS—A reference-free, Kmer-guided detection algorithm

poster

Ghatan, Samuel

CRISPRi perturbation screens and eQTLs provide complementary and distinct insights into GWAS target genes

talk

Gokhman, David

Uncovering the role of regulatory variants in human evolution

talk

Gonzalez-Lopez, Silvia

A temporal atlas of regulatory activity in the human genome during cell fate transitions

talk

Goren, Alon m

Improved spike-in normalization clarifies the relationship between active histone modifications and transcription

poster

Gravel, Simon

Genomics in a large human genealogy

talk

Gray, Olivia

Genetic and multi-omic insights into inflammation and metabolism in a French Polynesian cohort

poster

Guerrero Altamirano, Tania P

Trans-forming our idea of genetic interactions—Does genetic background matter for cis-regulatory activity?

poster

Gularte Merida, Rodrigo

Discrete phases of genome evolution underlie sarcomagenesis

talk

Guler, Jennifer L

Replication stress increases de novo CNVs across the malaria parasite genome

poster

Gunarathna, Sakuntha D

Differential cfDNA enrichment in open chromatin enhances cancer prediction and biomarker discovery

poster

Gunsalus, Laura

Compact native promoter design with machine learning-guided miniaturization

poster

Gutta, Ridhi

GEMINI—A breakthrough system for robust gene regulatory network discovery, enabling the application of gene regulatory networks to industrial level genetic engineering

poster

Hacheney, Jessica

Unveiling non-coding regulatory driver mutations in metastatic melanoma through allele-specific transcription factor footprinting

poster

Hadas, Yoav

Characterization of cell type-specific isoform expression in the adult human cortex using long-read RNA sequencing

talk

Haeussler, Maximilian

UCSC Track Hub browser adoption and recent improvements

poster

Haghani, Nadia B

The genetic basis of a unique structural coloration trait in the platyfish, Xiphophorus evelynae

talk

Hale, Charles O

Extensive modulation of a conserved cis-regulatory code across 625 grass species

poster

Hansen, Soeren B

Genetic variation and DNA methylation associated with local adaptation in growth rate of Atlantic silversides (Menidia menidia)

poster

Happ, Hannah C

Evaluating the dynamics of germline mutation at homopolymers with AVITI sequencing in a large, multi-generational pedigree

poster

Haque, Taslima

Effects of trans-acting regulatory mutations on gene expression plasticity and fitness

poster

He, Yaoxi

Complete assemblies and pangenome reference reveal unique features in the complex genomic regions of Tibetan highlanders

poster

Heinz, Jakob M

Foldback read artifacts in Oxford Nanopore datasets

poster

Hiatt, Laurel

Decrypting the colon—Leveraging a triad of techniques to investigate crypt-specific somatic mosaicism

talk

Hicks, Stephanie C

Spatially-aware quality control for spatial transcriptomics

talk

Hitz, Ben C

The IGVF catalog

poster

Hoge, Carla

Characterizing the demographic history of the ecologically important Acropora genus of stony corals

poster

Holleman, Aaron

Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration

poster

Hosseini, Rezwan

AFconverge—Mapping the hidden regulatory landscape of convergent evolution

poster

Housman, Genevieve

Benchmarking pooled cell culture and experimental perturbations for examining regulatory responses across evolutionary scales in primates

poster

Hu, Hongru

Identification of rules underlying how individual cell types give rise to convergent phenotypes in the brain

talk

Hu, Mengying

DALE-Eval—A comprehensive cell type-specific expression deconvolution benchmark for transcriptomics data

poster

Huerta-Sanchez, Emilia

The MUC19 gene in Denisovans, Neanderthals, and Modern Humans—An evolutionary history of recurrent introgression and natural selection

talk

Huntley, Naomi

Microbiome-associated host variants act in tissues beyond sampling sites

poster

Imafuku, Tadashi

A study of single-cell multiomics based on the analysis of cancer driver mutation diversity

poster

Jabado, Nada

H3K27me3 spreading organizes canonical PRC1 chromatin architecture to regulate developmental programs

talk

Jaganathan, Kishore

Predicting deleterious promoter mutations with deep learning

talk

Jakobson, Chris

A genome-to-proteome atlas charts natural variants controlling molecular and phenotypic diversity

poster

Jamal, Zoeb N

Structural variant discovery and characterization from de novo assembly of Khoe-Sān genomes

poster

James, Benjamin

Robust inference of co-regulated gene an peak modules from cell type specific single cell data

poster

Jang, Haerin

Single-cell eQTL mapping of immune response regulation in systemic lupus erythematosus patients

talk

Jia, Peilin

DrugSAGE—An interpretable method for drug response imputation

poster

Jurotich, Christina

Global activities of the RNA-dependent ATPase DDX41 in hematopoiesis and cancer

poster

Kalita, Cynthia

Single-cell genomics of peripheral immune cells reveals anti-inflammatory gene regulatory mechanisms in older adults with positive psychosocial experiences

poster

Kalyan Sundaram, Reshma

Myc and AP-1 oncogenes synergistically bind enhancers to transcriptionally rewire cells

poster

Kamitaki, Nolan

Viral DNA load is polygenic and confers lymphoma risk

talk

Keener, Rebecca

Mechanisms underlying chromosome end-specific telomere length regulation in humans

poster

Kern, Andrew D

Deep learning for population genetics

talk

Kerner, Gaspard

Tissue-specific epigenomic profiles inform pleiotropic partitioning of disease loci

poster

Kesar, Devishi

Deciphering pediatric glioma subtypes—Super-enhancer dynamics and (epi)genomic insights into cell of origin

poster

Kim, April

Bayesian polygenic prediction with a non-parametric functionally informed prior improves prediction of complex traits from genotypes

poster

Kim, Doyeon

MicroRNA perturb-seq reveals genome-wide functional targets and deleterious 3’UTR variants

poster

Kim, Hie Lim L

From North Asia to South America—Tracing the longest human migration through genomic sequencing

talk

Kim, Taeho

Integrating knowledge graph-based drug representation with cancer omics data to improve deep learning models for drug response prediction

poster

King, Hamish W

High-throughput target discovery for non-coding autoimmune GWAS loci in primary human immune cells

talk

Kmiecik, Magda

Transposable element mediated rearrangements across great ape genomes

poster

Kodali, Vamsi

Annotating eukaryotic genomes at NCBI and beyond

poster

Koehler, Samuel I

Haplotype phasing and comparative genomics of algae Nannochloris desiccata, Scenedesmus obliquus, Tetraselmis striata

poster

Koesterich, Justin

Investigating AIS associated GWAS variant disruptions to gene transcription

poster

Koo, Peter

Designing DNA with tunable regulatory activity using discrete diffusion

poster

Koren, Amnon

Genetic control of local mutation rates

talk

Krishnan, Arjun Sai

Population genomics of the stony coral Acropora millepora across the Great Barrier Reef

poster

Kuru, Nurdan

Leveraging ARGs for population-label-free PRS prediction

talk

Lal, Avantika

Decoding sequence determinants of gene expression in diverse cellular and disease states

talk

Lambolez, Alice

General principles and cell type-specificity of the human RNA-DNA interactome

talk

Lana Alberro, Mikel

Characterization of archaic ancestry in 63,000 Japanese individuals from the Tohoku Medical Megabank

poster

Lawniczak, Mara

Investigating neglected human malaria parasites from natural infections with single cell and long read approaches

poster

Lee, Christopher

UCSC Genome Browser—HubSpace track storage

poster

Lemanczyk, Marta S

Mechanistically Interpretable CNNs for Disentangling Genomic Interactions

poster

Li, Qiuhui

Novel variant discovery and implications for interpretation from long-read sequencing on 1,027 African Americans in All of Us

talk

Li, Stacy

Characterizing de novo structural variation in the aging germline

talk

Li, Taibo

Discovery of cell type-specific regulatory networks using single-cell multi-omic analysis of human heterogenous differentiating cultures (HDC)

poster

Li, Tony

Functional plasticity and tunability in the evolution of developmental enhancers

poster

Li, Xintong

Inference of genetic ancestry from challenging molecular data across multiple experimental strategies

poster

Lin, Jiadong

A high-resolution pangenome structural variant resource increases sensitivity for pathogenic variant detection

poster

Lin, Xiao

IsoPropeller—An integrated computational framework for analyzing long-read RNA-seq data

poster

Liu, Boxiang

Integration and annotation of spatial multi-omic data with DIRAC highlights spatial organization of lymphoid organs

poster

Liu, Cong

Multi-lineage transcriptional and cell communication signatures define pathways in individuals at-risk for developing rheumatoid arthritis that initiate and perpetuate disease

poster

Liu, Jiayi

Computational framework for predicting the effect of non-coding variation

poster

Loell, Kaiser

Thermodynamic surrogate models for interpreting genomic deep neural networks

poster

Longtin, Amy

Tissue-dependency of meQTLs in a free-range population of rhesus macaques

poster

Loucks, Hailey

Ancient centromere spanning haplotypes provide insight into human centromeric satellite evolution in telomere-to-telomere (T2T) genomes

poster

Lu, Shuangjia

Assessing the value of the human pangenome reference for trait association analyses

poster

Lulla, Suhasini D

The landscape of germline and somatic cancer variants in tumor suppressor genes.

poster

Mackay-Smith, Ava

Exploring hybridization persistence—Gene regulatory dynamics and sex-specific recombination landscapes in Lepidoptera

poster

MacQuarrie, Kyle L

TAD-independent changes in chromosome-specific spatial and geometric characteristics occur during myogenic differentiation

poster

Mancuso, Nicholas

Efficient count-based models improve power and robustness for large-scale single-cell eQTL mapping

talk

Mangan, Riley J

Deep learning predicts cis-regulatory turnover in human evolution

poster

Marsico, Franco

Identity-by-descent captures shared environmental factors at biobank scale

poster

Martin Linares, Cristina

Explaining the mechanistic framework of SpliceAI using PhantomForest

poster

Massarat, Arya

Haplotype-based fine-mapping of variant associations for complex traits

poster

Matos, Marliette

Understanding the impact of common variants on the transcriptional regulatory landscape of CD4+ T cells and predisposition to immune-related traits

poster

Mattioli, Kaia

Widespread variation in molecular interactions and regulatory properties among transcription factor isoforms

talk

McConnell, Hunter

Development of a new method for identification of ancestral alleles from whole genome sequence data

poster

Meyn, Stephen

Developing BadgerSeq, an AI-assisted model for ultra-rapid long-read genome sequencing for critically ill infants

poster

Milind, Nikhil

Buffering and non-monotonic behavior of gene dosage response curves for human complex traits

poster

Miraszek, John L

Archaic admixture refutes the current paradigm of two independent cattle domestications

poster

Mirmira, Tara

Multi-study fine-mapping enables identification of shared and ancestry-specific signals driving complex traits

poster

Mishmar, Dan

MtDNA mutations differentially affect mitochondrial transcription

poster

Moore, Jill E

Dynamic classification of cis-regulatory elements across diverse cellular contexts

poster

Moreira, Ricardo

Complete characterization of human polymorphic inversions and other complex variants from long read data

poster

Mosher, Stephen L

Enabling genomic research at scale with NHGRI AnVIL—A cloud platform for genomic data analysis

poster

Mouratidis, Ioannis

Identification of the shortest species-specific oligonucleotide sequences

poster

Nair, Surag

Nona—A unifying multimodal masked modeling framework for functional genomics

poster

Nassir, Nasna

Arab Pangenome Reference—Uncovering novel sequences

poster

Navin, Nicholas

When is a cancer really a cancer? Aneuploidy in normal breast tissues

talk

Nayak, Akshatha

The impact of passenger mutations on cancer development

poster

Ni, Bohan

Resolving gene-altering SVs improves the quantification of transcript abundances

poster

Nozu, Ryo

New pathway analysis environment using WikiPathways mechanism

poster

Obih, Chosen E

Genome-wide association mapping of drought-induced oxidative stress responses in indica rice reveals structural variation in OsAAO2 as a key regulator of ascorbate redox state

poster

Oh, Dong-Ha

Developing flexible and scalable visualization of whole genome alignments at NCBI

poster

Oh, Sungryong

We interpret congenital heart disorders by comprehensive analysis of cell type-specific gene regulatory program in the early developing human heart

poster

Ortigas-Vasquez, Alejandro

The diverse and complex landscape of repetitive elements in viral genomes

poster

Osato, Naoki

Functional prediction of DNA/RNA-binding proteins by deep learning from gene expression correlations

poster

Osato, Naoki

Systematic discovery of directional regulatory motifs associated with human insulator

poster

Pajic, Petar

Evolution of MUC1 exonic variable number tandem repeats

poster

Pankratov, Vasili

Sperm competition intensifies purifying selection on spermatogenesis-relevant genes in primates

poster

Pardo, Katherine

Characterizing cell-type-specific isoforms using long-read transcriptomics to enhance rare disease variant interpretation

poster

Park, Eddie

Origins and implications of intron retention quantitative trait loci in human tissues

poster

Park, Jiyeon

Dynamics of RPS24 alternative splicing in breast cancer and therapeutic implications

poster

Parthiban, Sowmya

Characterizing Coverage biases in long-read direct RNA sequencing for improved isoform quantification

poster

Pensch, Raphaela

Comparative analysis of non-coding constraint mutations in canine and human osteosarcoma reveals a shared underlying disease network

talk

Perez-Calles, Claudia

Evolution of toxin resistance in the grasshopper mouse

poster

Petersen, Rachel M

Early-life adversity predicts cross-tissue DNA methylation patterns associated with age in rhesus macaques

poster

Pinello, Luca

SIMBA+—Dissecting genetic variant function through single-cell multiomics integration

talk

Poetsch, Anna R

Per-nucleotide somatic mutation modelling reveals strong patient-specific sequence preference of mutagenesis

poster

Pott, Sebastian

Cell-type-resolved chromatin accessibility in the human intestine identifies complex regulatory programs and clarifies genetic associations in Crohn’s disease

poster

Pozo, Gabriela

Reference genomes and conservation applications for emblematic and endangered Ecuadorian species

poster

Raeder, Henry W

Harnessing drug-induced gene expression changes for improved drug response prediction

poster

Ramakrishnan, Srividya

Living fossils—Leveraging single-molecule sequencing to decode the complex genomes of ancient plant lineages

poster

Ramos-Almodovar, Fabian

Phylogenetic patterns of context-specific mutation spectra across 113 eukaryotes

poster

Raptis, Vasilios

Dissecting the multi-omic risk factors for delirium

poster

Ray, John

Genome-wide perturbations link autoimmune genetic risk to primary T cell expression and function

poster

Raychaudhuri, Soumya

Functionally defining the gene regulatory effects of complex autoimmune disease alleles

talk

Reese, Fairlie K

Long-read transcriptomics of a diverse human cohort reveals widespread ancestry bias in gene annotations.

poster

Rehmann, Clara

Sweeps in space—Leveraging geographic data to identify beneficial alleles in Anopheles gambiae

poster

Rescenko-Krums, Raimonds

Workflow for polygenic score analysis and visualization from single-sample whole genome sequencing VCF data

poster

Rivas, Manuel A

Unified meta regression model for rare variant association studies (RVAS)—Missense pathogenicity, constraint, and loss-of-function

poster

Rivas-González, Iker

Admixture dynamics of a hybrid baboon population revealed by near-T2T assemblies

poster

Rizzo, Kaeli

Enabling large-scale interpretation of genomic foundation models through knowledge distillation

poster

Rodrigues, Murillo F

Decoding a complete genomic repository of North American captive marmosets—Insights into recent population history and biology

poster

Rosen, Jonathan D

Increased power in eQTL studies helps close colocalization gap with GWAS signals

poster

Rosen, Leah

Modelling gene dosage response across modalities at single cell resolution

poster

Rosenski, Jonathan

An atlas of allele-specific DNA methylation in the human body

poster

Rotival, Maxime

Cell-type- and context-specific effects of archaic introgression on modern human immune responses

poster

Rozowsky, Joel

Predicting allele-specific effects using a local sequence-based transformer model

poster

Salehi, Farnaz

Exploring residual heterozygosity in inbred rat strains—How much, where, and why?

poster

Santana Garcia, Walter

Nanopore duplex sequencing reveals patterns of asymmetric states of 5hmC and 5mC in the medaka brain genome

poster

Saraswat, Manu

DeepGenoXcan—Interpretable deep learning for cell-state-aware sequence-to-expression mapping in personalized genomes

poster

Sasani, Thomas A

Fast and furious mutation at tandem repeats in a large, four-generation family

talk

Scheer, Kendra

Adaptive increase of amylase gene copy number in Peruvians driven by potato-rich diets

poster

Sederman, Casey

Scaling deep learning-based cancer drug response prediction models for precision oncology applications

poster

Seitz, Evan

Decoding the mechanistic impact of genetic variation on regulatory sequences with deep learning

poster

Serrano, Isabel M

Investigating the role of mitochondrial DNA in sperm immotility

poster

Shapira, Kobi

A-to-I editing generates unparalleled complexity in the neural proteome of cephalopods

poster

Sharawy, Marwan

Cell-type-specific age and sex effects on gene regulation in immune responses to viruses

poster

Shemirani, Ruhollah

Prevalence of founder groups in the all of us research project and its implications for genomic research

poster

Sheynkman, Gloria

New frontiers in proteomics—Technologies to illuminate proteoforms in complex traits and disease

talk

Shivakumar, Vikram

Mumemto—Efficient maximal matching across pangenomes

poster

Shtolz, Noam

Overlapping reading frames within the mtDNA are deeply conserved and associate with a programmed frame shift mechanism

poster

Sim Chin Yee, Faith

Oral microbiome diversity across different ethnicities in Thailand

poster

Singh, Amartya

Effective single cell counts analysis—Feature selection in the original genes space and choice of number of coordinates in reduced dimensions principal components space hold the key

poster

Smeds, Linnea

Non-canonical DNA in human and other ape telomere-to-telomere genomes

poster

Solvason, Joseph J

Enhancer grammar of developmental enhancers

poster

Song, Dongyuan

spCorr models spatially variable gene co-expression patterns in spatial transcriptomics

poster

Song, Janet

Uncovering gene regulatory differences between human and chimpanzee neural progenitors

talk

Spealman, Pieter

Long-read transcriptomics of differentiating neurons identifies cell type specific splice isoforms with functionally distinct regulatory elements and encoded peptides

talk

Sridharan, Samvardhini

Worldwide patterns of diversity at the 17q21.31 locus in modern and ancient human genomes

poster

Srivastava, Rachita

Comparative demographic analysis of Cardamine hirsute and Arabidopsis thaliana

poster

Staklinski, Stephen J

Bayesian inference of the metastasis graph from cancer cell lineage tracing data

poster

Stamper, Ericca

LinkPrep™—A rapid high-resolution method that improves chromatin conformation data

poster

Su, Bing

3,023 human genomes from mainland Southeast Asia disclose hidden genetic diversity and signatures of tropical adaptation

poster

Sudmant, Peter

The evolution of structural and single nucleotide mutation across haplotype-resolved vertebrate genome assemblies

talk

Sun, Qi

A large language model (LLM) constructed from global Vitis haplotype alleles and its applications

poster

Swanson, Elliott

Comprehensive diploid chromatin map of a single cell using deaminase-assisted fiber-seq (DAF-seq)

talk

Syam, Aditya

GrgPhenoSim—A phenotype simulator for genotype representation graphs

poster

Takahashi, Hazuki

Cap-Trap full-length cDNA sequencing uncovers novel cell type-specific capped transcripts and diverse coding and non-coding RNA isoforms

poster

Thakur, Jitendra K

Mouse and human centromeric and pericentric satellites share a common evolutionary trajectory

poster

Thompson, John

Electronic genome mapping for verifying somatic structural variants

poster

Tijjani, Abdulfatai

Functional and epigenetic characterization of African pan-genome contigs—Implications for reference genome bias and human genomic diversity

poster

Timoshevskaya, Nataliya

Dissecting functional elements in giant genomes using the first generation of high-quality salamander assemblies

poster

Torres, Maria de Lourdes

Insights into the genetic diversity and adaptation mechanisms of the Andean blueberry to extreme environments using genomic approaches

poster

Tovar, Adelaide E

Assessing cellular contexts of type 2 diabetes-associated variants at scale

poster

Tran, Hanh

SCiMS—Sex calling in metagenomic sequences

poster

Tsambos, Georgia

Detecting germline mutations in low-coverage sequence data using pedigrees

poster

Twersky, Itamar

Extensive ADAR-mediated RNA editing shapes KRAB-ZFP diversity through dynamic modification of DNA-binding domains

poster

Uzun, Yasin

A novel framework for building cell-specific gene regulatory networks with single-cell multi-omics

poster

Van der Heiden, Anna Darlene

Non-coding mutations in diffuse large B-cell lymphoma—A cross-species study

poster

Vasilopoulou, Christina

IndiGene (GENEtics of INDIviduality)—RNA-seq analysis of selected tissues and different environments in Medaka fish

poster

Vaz, Eduarda

Neural network models predict protein levels from sequences across individuals and genes

talk

Vazquez, Juan M

Extensive structural variation and longevity-associated adaptations in nearctic Myotis  bats

poster

Vilgalys, Tauras P

Immune pleiotropy and evolution in the response to Yersinia pestis

poster

Walawalkar, Isha

Investigating how poison exons modulate alternative splicing to shape transcriptomes in pluripotency and differentiation

poster

Walia, Sumit

Compressive pangenomics using mutation-annotated networks

poster

Wall, Jeff D.

Estimating recent population split times in non-panmictic populations

poster

Wang, Lingfei

Airqtl dissects cell state-specific causal gene regulatory networks with efficient single-cell eQTL mapping

poster

Wang, Ruoyu

Single-molecule sequence models to decode the regulatory genome

poster

Wang, Shuyue

Revisit global expression change in single-cell perturbation data

poster

Wang, Xiaoyue

Comprehensive functional assessment of NF1 and NF2 variants with high-resolution base editing screens

poster

Wang, Xiaoyue

COUTURE—facilitating interpretation from genotype to molecular and functional phenotype in single-cell CRISPR screening

poster

Wang, Zishan

Allele specific expression in Alzheimer's disease

poster

Watowich, Marina M

Industrialization influences biological and molecular mechanisms of aging in immune cells in three non-industrial populations

poster

Wright, Sarah N

Network-level convergence of rare and common variants underlying complex traits

poster

Xia, Bo

High-throughput in silico screen discovered novel regulators of 3D genome organization

poster

Xie, Zhuorui

Characterization of codon and amino acid frequency variation in the human genome

poster

Xing, Jiawei

A computational modeling framework for single-cell gene expression evolution leveraging lineage phylogeny of metastatic cancer

talk

Xu, Huilin

Defining the landscape of poison exons and their involvement in human diseases

poster

Xu, Ke

chronODE—A framework to integrate time-series multi-omics data based on ordinary differential equations combined with machine learning

poster

Xu, Tianyao

A novel framework for multiplex measurements of the abundance and interaction of proteins

talk

Yakymenko, Illya

On the accurate imputation of common inversions in the human genome

poster

Yang, Xiaoxu

Reconstruct human clonal development with mosaic variants

poster

Yao, Jianing

Spatial domain detection using contrastive self-supervised learning for spatial multi-omics technologies

poster

Yu, Zhezhen

Expanding the readable genome—A novel approach for analyzing mononucleotide C repeats

poster

Zarnick, Samantha M

Assessing the impact of genetic variation on chromatin interaction during brain development

poster

Zeberg, Hugo

When archaic genes boost growth—The Neanderthal growth hormone receptor

poster

Zeng, Xin

Genome-wide inference of position-specific elongation rates using time-course nascent RNA-seq data

poster

Zhang, Alouette

Exploring selective scanning with Dz statistic—Simulation and empirical studies

poster

Zhang, Xua

Systematic analysis of the impact of short tandem repeats on gene expression

talk

Zhigulev, Artemy

The role of rare non-coding variants in bicuspid aortic valve pathology

poster

Zhu, Chumeng

Deep learning deciphers the regulatory grammar of transcription initiation in non-model immune cells

poster

Ziaei Jam, Helyaneh

Improving genetic score portability and causal variant detection through a novel joint Bayesian framework

poster

Zulawinska, Julia

Studying the emergence of de novo copy number variations in malaria parasite Plasmodium falciparum with long-read sequencing

poster