|
Presenting Author |
Abstract Title |
Talk/Poster |
|
Abdullaev, Eldar |
A genomic driver-based approach to differentiate mucinous cancers across organs |
poster |
|
Abebe, Bethlehem |
Biochemical, genomic, and structural analysis of protein complexes involved in cytokinesis |
poster |
|
Adams, Mark |
Species-targeted transcriptional profiling in a metagenomic context |
poster |
|
Adamson, Scott |
High-throughput identification of the impact of genetic variants on splicing in the context of the endogenous genome |
poster |
|
Aganezov, Sergey |
Native nanopore sequencing of multiple tumor sites reveals genetic and epigenetic intra-tumor heterogeneity in canine osteosarcoma |
poster |
|
Aguilar Gomez, Diana |
Genetic rescue, selection, and conservation—Insights from Florida’s puma whole-genome sequencing analysis |
talk |
|
Aharonoff, Avrami |
SMC-4 duplications in nematodes highlight the remarkable ability of SMC proteins to gain new functions |
poster |
|
Ahmed, Omar J |
Cliffy—Robust taxonomic read classification using compressed linear pangenome indexes |
poster |
|
Akamatsu, Kai B |
Multi-ancestry gene expression prediction identifies novel genes regulating complex traits |
poster |
|
Albert, Frank W |
Trans-eQTL hotspots shape complex traits by modulating cellular states |
talk |
|
Alston, Grace |
Regulation of PAX6 expression—Insights from the compacted Fugu genome |
poster |
|
Amariuta, Tiffany |
Identifying causal cell types of immune-mediated diseases and traits using eQTL models derived from single cell RNA-sequencing studies |
poster |
|
Ambat, Bigy |
Gene co-expression network analysis of spatial transcriptomics data reveals molecular processes altered in Sjögren’s syndrome |
poster |
|
Ardlie, Kristin |
The pediatric and non-human primate developmental genotype-tissue expression projects |
poster |
|
Arndt, Peter F |
An efficient way to infer demographic history from the analytical distribution of distances between heterozygous sites in diploid species |
talk |
|
Arthur, Timothy D |
Mapping genetic effects in early developmental tissues reveals phenotypic and temporal complexity of regulatory variants underlying GWAS loci |
poster |
|
Ayalew, Mentewab |
Potential production of antibiotics in plant root microbiomes—A metagenomic analysis |
poster |
|
Bae, Taejeong |
Characterizing somatic mutations in urine-derived cells |
poster |
|
Balderson, Brad |
DNACipher—Predicting the cell type specific molecular function of genetic variants with a deep learning model that allows for missing experiments |
talk |
|
Barnie, Prince A |
Differential expression of microRNAs in plasma of cervical cancer patients in Ghana |
poster |
|
Belleau, Pascal |
Computational framework for inference of genetic ancestry from challenging human molecular data |
poster |
|
Bertrand, Alexis J |
Somatic genetic rescue in Shwachman diamond syndrome |
poster |
|
Biddanda, Arjun |
Genetic architecture and fitness costs of meiotic recombination across 69,223 in vitro fertilized embryos |
poster |
|
Billmann, Maximilian |
A genetic interaction map for a human cell line |
poster |
|
Boev, Nadejda B |
A machine learning approach to predicting double strand break repair mechanisms from whole genome sequencing |
poster |
|
Bond, Marielle |
Prioritizing Alzheimer’s disease genetic risk variants with massively parallel reporter assays and 3D chromatin structure |
poster |
|
Borrego-Yaniz, Gonzalo |
Identification of new risk loci and pathways involved in giant cell arteritis by a genome-wide study |
poster |
|
Borsari, Beatrice |
chronODE—A framework to integrate time-series multi-omics data based on ordinary differential equations combined with machine learning |
poster |
|
Bortvin, Andrew N |
Recombination maps for a complete human genome |
poster |
|
Brambrink, Lucas |
Highly accurate assembly polishing with DeepPolisher |
poster |
|
Braynen, Janeen C |
Elucidating nitrogen use efficiency in crops through comparative analysis of gene regulatory networks in maize and sorghum |
poster |
|
Breeze, Charles |
F-MAGMA—Leveraging epigenomic data for enhanced GWAS target gene identification |
poster |
|
Brody, Lawrence |
The ELSI of social determinants of health in genomic research |
panel discussion |
|
Brown, Brielin C |
Large-scale causal discovery using interventional data sheds light on the regulatory network architecture of blood traits |
poster |
|
Bruno, Melania |
Adding the missing tiles to the puzzle—Sequence reconstruction of KRAB-ZFP gene clusters highlights their rapid evolution in mice |
talk |
|
Brunton, Krishna S |
Leveraging genome-wide effects on gene expression to identify new disease-critical genes with trans-genetic components |
poster |
|
Buckley, David |
A cell-free DNA methylation liquid biopsy for minimal residual disease detection in breast cancer patients |
poster |
|
Buonaiuto, Silvia |
The BIG initiative for genotype-phenotype study in admixed population |
poster |
|
Calverley, Ben C |
A standard model for biology—How spatial covariance holds the key to explaining function from genetic sequence |
poster |
|
Carioscia, Sara A |
Preimplantation genetic testing data from 129,479 IVF embryos reveals the landscape of haplo- versus triplo-sensitivity prior to blastocyst formation |
talk |
|
Carroll, Eitan S |
Global genetic diversity in core immunity genes |
poster |
|
Castel, Stephane E |
A map of blood regulatory variation in southern Africans enables GWAS interpretation |
poster |
|
Chamberlin, John |
Improved single-cell RNA-seq analysis with paired-end avidity sequencing |
poster |
|
Chan, Leah |
Revolutionizing RNA extraction—A unified, sustainable, and rapid protocol for high-quality isolation from diverse tissues |
poster |
|
Chan, Yingguang Frank |
Flexible and high-throughput simultaneous profiling of gene expression and chromatin accessibility in single cells |
poster |
|
Chen, Xun |
Cryptic endogenous retrovirus subfamilies in the primate lineage |
poster |
|
Chen, Ziwei |
ReporterNet predicts regulatory activity for sequences in diverse reporter assays and enables systematic comparative analysis of high throughput reporter assays |
poster |
|
Cheng, Yuhe |
DupCaller enables robust detection of somatic mutations from error-corrected sequencing |
poster |
|
Cherlin, Tess |
Associations between microbiome-associated variants and diseases—Insights into the role of the gut microbiome in deep vein thrombosis in diverse populations |
poster |
|
Chougule, Kapeel M |
Swift pan-genomic methods for comprehensive genome annotation in crop genomes |
poster |
|
Chowell, Diego |
An immunogenetic basis for lung cancer risk |
talk |
|
Chung, Ryan |
Improving cross-population generalizability of genetic models of gene expression using sequence-to-expression deep learning predictions |
poster |
|
Clairmont, Cullen D |
A human stem cell approach to model the developmental origin of intracranial germ cell tumors |
poster |
|
Clarke, Stanley |
A peak calling algorithm for ATAC-seq in aneuploid genomes |
poster |
|
Cook, Daniel E |
DeepSomatic—A SNV and small-indel somatic caller using deep neural networks |
poster |
|
Cooperstein, Isabelle B |
Phenotypic patient matching algorithms for genetic diagnosis and novel disease gene discovery |
poster |
|
Coorens, Tim |
Somatic mosaicism across human tissues |
talk |
|
Crawford, Lorin |
Scalable nonparametric clustering with unified marker gene selection for single-cell RNA-seq data |
talk |
|
Crnjar, Alessandro |
What is the best training distribution for genomics AI models on a budget? |
talk |
|
Dardas, Zain |
Genomic balancing act—Deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1 and 18q21.32 |
poster |
|
DeGroat, William B |
Constructing cell type-specific enhancer-promoter interaction networks with massively parallel reporter assays |
poster |
|
Dong, Michael X |
Dog accelerated regions—Unveiling the genomic secrets behind the evolution of Canis lupus familaris |
poster |
|
Dou, Wanying |
Enhancing genomic variant filtration with GATK VETS—A robust framework for improved accuracy and reproducibility |
poster |
|
Dou, Yuan |
Major satellite repeats transcription regulatory elements investigation |
poster |
|
Dratva, Lisa |
Towards deciphering the T cell receptor-antigen-HLA code with single cell genomics |
talk |
|
Dudnyk, Kseniia |
Sequence basis of transcription Initiation in human genome |
poster |
|
Emani, Prashant S |
PsychENCODE integrative analysis—Single-cell genomics and regulatory networks for 388 human brains |
talk |
|
Eshghi, Iraj |
A coordinate-conscious model for Hi-C at complex SVs |
poster |
|
Fabo, Tania N |
Understanding the interaction between genetic and dietary environmental risk in colorectal cancer |
poster |
|
Fang, Zhanjie |
R-loops characterized by short sequence motifs across the human genome show region specificity |
poster |
|
Feng, Ru |
Novel quantification of unproductive splicing via RNA-Seq deepens insights into transcriptomic regulations in Alzheimer's disease |
poster |
|
Ferreira dos Santos, Filipe |
Transcriptomics landscape of surfaceome genes throughout the neurodevelopmental stages of normal brain organoids |
poster |
|
Ferreira, Lucas |
DNA-diffusion—Leveraging generative models for controlling chromatin accessibility and gene expression via synthetic regulatory elements |
talk |
|
Fitzgerald, Donnacha |
Tumor evolution through differentiation in B-cell lymphomas |
poster |
|
Flanary, Victoria L |
Non-coding genetic variations drive resistance to retinoid-induced differentiation therapy in neuroblastoma |
poster |
|
Florian, Colin |
Interrogation of the regulatory grammar of MYT1L bound promoters |
poster |
|
Formenti, Giulio |
Kreeq—Estimating and improving consensus accuracy in reference genomes |
poster |
|
Founta, Kyriaki |
Genetic ancestry drives methylation differences in African and European patients influencing immune function regulation in breast cancer |
poster |
|
Fronk, Alyssa |
Decoding “undruggable” targets using SpliceCore®, a machine learning platform for RNA therapeutics development |
poster |
|
Galante, Pedro A |
From pseudogenes to functional players—The broad spectrum of retrocopy activity in mammalian genomes |
poster |
|
Gardiner, Stephanie |
Deep, targeted, duplex-sequencing to determine the impact of inherited BRCA deficiency on somatic mutation burden and profile in healthy tissues |
talk |
|
Garrison, Erik |
Recombination in pseudo-homologous regions is the cause of recurrent Robertsonian translocations |
poster |
|
Garud, Nandita |
Pervasive selective sweeps within and across human gut microbiomes |
talk |
|
Georgakopoulos-Soares, Ilias |
Quadrupia—Derivation of G-quadruplexes for organismal genomes across the tree of life |
poster |
|
Georges, Stephanie |
Adapting the RUFUS variant detection algorithm for somatic mutation detection |
poster |
|
Ghodsi Asnaashari, Tina |
Precision subtyping of breast cancer using single-cell spatial omics—Integrating machine learning and comparative analysis |
poster |
|
Giannoulis, Xenofon |
Tissue-specific mitochondrial regulation of gene expression |
poster |
|
Gladman, Nicholas P |
Sorghum pan-transcriptome reveals divergent and constrained modules for inflorescence morphology |
poster |
|
Gomez, Alejandro |
CRISPR-mediated identification of target genes for variants prioritized by MPRA |
poster |
|
Gonzalez-Rivera, Wilfredo |
Unraveling the complexity of social descriptors and the continuum of ancestry for precision medicine |
poster |
|
Grimes, Seraj |
Cell-type specific polygenic scores and association with gene expression levels |
poster |
|
Groza, Cristian |
Complete human population epigenomes and variation from long-read assemblies of 5mC-HiFi-GS |
poster |
|
Guarracino, Andrea |
Aligning pangenomes with hierarchical wavefront alignment |
poster |
|
Gularte Merida, Rodrigo |
Spatial single-cell DNA copy number analysis reveals the evolution and population dynamics of liposarcomas |
poster |
|
Haba, Yuki |
Origin and status of the London Underground mosquito, Culex pipiens bioform molestus |
talk |
|
Hallast, Pille |
Improving the accuracy of genome assemblies using Verkko and complex regions of the human Y chromosome |
poster |
|
Hansen, Tyler |
Genetic effects on the dynamic innate immune response to pathogens |
poster |
|
Happ, Hannah C |
Evaluating germline mutation rates at repetitive loci with AVITI sequencing and multi-generational CEPH pedigrees |
poster |
|
Hazzard, Brittany |
Single-cell analyses of polyclonal Plasmodium vivax infections and their consequences on parasite transmission |
poster |
|
He, Shuyu |
The genetics of gene expression divergence in wild baboons |
poster |
|
He, Xuening |
DeepCompare—A lightweight architecture for in-depth characterization and comparative analysis of regulatory grammar and functional interpretation of genetic variants |
poster |
|
Hebbar, Prajna N |
Comparative Annotation Toolkit 2.0.—Improving gene annotations for vertebrates and human pangenomes |
poster |
|
Hiatt, Laurel |
Population-level genomic insights gained from STRchive, a dynamic resource for short tandem repeat disease loci in humans |
poster |
|
Hill, Mark S |
Unlocking scalable and efficient multiomic analysis of 5- and 6-base genomes. |
poster |
|
Hoadley, Katie |
Immune microenvironment signatures in population-based breast cancer cohorts |
talk |
|
Hodges, Emily C |
Understanding how DNA methylation mediates enhancer function to drive cell differentiation |
poster |
|
Hsu, Yu-Han H |
Neuron-specific protein interactomes of rare variant schizophrenia risk genes concentrate genetic, transcriptomic, and proteomic perturbations linked to schizophrenia |
poster |
|
Hu, Fengyuan |
Phenome-wide association studies of copy number variations in UK Biobank whole genomes |
poster |
|
Huang, Kuan-lin |
Improving diagnostic yields of cancer predisposing variants in diverse populations |
poster |
|
Huang, Yi |
Mapping gene regulatory landscape by pooled natural genetic variation screens under disease relevant stimulations in human adipocytes at single nucleus level to inform metabolic disease genetics |
poster |
|
Hunt, Toby |
Expanding the GENCODE geneset—Identification and interpretation of non-canonical human translated sequences |
poster |
|
Huuki-Myers, Louise A |
Benchmark of cellular deconvolution methods using a multi-assay reference dataset from postmortem human prefrontal cortex |
poster |
|
Ibeh, Neke |
Impacts of population-specific genetic architecture and archaic introgression on the landscape of gene regulation across Island Southeast Asia |
talk |
|
Imielinski, Marcin |
A mass balance principle to study cancer genome structure |
talk |
|
Iwabuchi, Sadahiro |
New classification of hepatocellular adenoma by single-cell RNA sequencing |
poster |
|
Jang, Yeongjun |
Early post-zygotic mutations are inherited by the germline and reveal its polyclonal origin in humans |
poster |
|
Jeong, Seok Ho |
Plasma proteomic profiles reveal proteogenomic predictors of future rheumatoid arthritis risk |
poster |
|
Jin, Dongmin |
Meta-analysis of the human gut microbiome uncovers shared and distinct microbial signatures between diseases |
poster |
|
Joglekar, Anoushka |
Cell-type specific multibody genomic interactions influence splicing |
poster |
|
Joshi, Ketki |
Incorporating “informative” long distance SNPs through Hi-C improves prediction accuracy of gene expression |
poster |
|
Kalantzis, Georgios |
Investigating rare recessive effects on quantitative and binary phenotypes in a cohort of 39,152 British Pakistanis and Bangladeshis enriched for autozygosity |
poster |
|
Kamitaki, Nolan |
Host genetic effects on oral microbiome composition influence dental health |
talk |
|
Kaplow, Irene M |
Integration of machine learning and experimental approaches for quantifying enhancer activity differences between species |
poster |
|
Karbalayghareh, Alireza |
Learning multiomic velocities of germinal center B cells using single-cell multiome |
poster |
|
Kerner, Gaspard |
Tissue-specific pleiotropic and epigenomic partitioning of fine-mapped SNPs |
poster |
|
Keskus, Ayse |
Severus—Accurate detection and characterization of complex somatic structural variation in tumor genomes using long reads |
poster |
|
Khalid, Shareef |
Identification of human knockouts in a cohort of high consanguinity |
talk |
|
Khamseh, Ava |
High order expression dependencies finely resolve cryptic states and subtypes in single cell data |
poster |
|
Kim, Hyunkyung |
Removing pleiotropic signals reveal disease-specific genetic architecture in noisy, shallow biobank phenotypes |
talk |
|
Kim, Juhyun |
Identifying haplotype-specific transcripts expressed in a diploid genome |
poster |
|
Kitzman, Jacob O |
Pathway-scale functional assays resolve missense effects and reveal epistatic interactions in DNA mismatch repair factors |
talk |
|
Koesterich, Justin |
Network analysis of enhancer promoter interactions highlights cell-type specific mechanisms of regulatory variation |
poster |
|
Kozyrev, Sergey |
Identification of evolutionary constraint non-coding regulatory driver mutations in >2500 pan-cancer genomes |
poster |
|
Kreimer, Anat |
Comprehensive network modeling approaches unravel dynamic enhancer-promoter interactions across neural differentiation |
poster |
|
Kunisaki, Jason |
Reduced male fertility is associated with elevated germline but not somatic mutation rates |
talk |
|
Labayle, Olivier |
Targeted Estimation of genetic effects in population genetics |
poster |
|
Lai, Qiliang |
Disentangle associations between traits and cell types with seismic |
poster |
|
Lakhani, Chirag |
Localization of polygenic signal in Alzheimer’s disease through the integration of cell-type functional annotations and deep learning models |
poster |
|
Lariviere, Delphine |
Automated reference genome assembly and annotation on public infrastructure with Galaxy |
poster |
|
Lawniczak, Mara |
Malaria mosquito population genomics across Africa now and over the past century |
talk |
|
Lee, Seung Hyuk T |
Native American ancestry and type 2 diabetes influence the risk of severe COVID-19 outcomes in Mexicans |
poster |
|
Lee, Sool |
Massively parallel reporter assay investigates shared genetic variants of eight psychiatric disorders |
poster |
|
Lee, Young-suk |
Near-optimal variant calling with pseudo-database construction |
poster |
|
Li, James L |
Mapping cell type interaction DNA methylation QTLs across multiple human tissues |
poster |
|
Li, Jinghui |
Protein-protein interaction is a dominant trans- regulatory mechanism of the proteome and complex trait genetics |
poster |
|
Liang, Wen-Wei |
Transcriptome-scale RNA-targeting CRISPR screens reveal essential lncRNAs in human cells |
talk |
|
Lin, Wenhe |
Cell-type specific and temporally dynamic genetic regulatory effects in response to environmental perturbations |
talk |
|
Lin, Wenhe |
Genetic regulatory effects in response to a high cholesterol, high fat diet in baboons |
poster |
|
Liu, Boxiang |
Single-cell RNA-seq links cell-type-specific regulation of splicing with complex diseases |
poster |
|
Liu, Jianjun |
Genomic odyssey—A comprehensive exploration of the fully phased diploid Indian genome, unraveling its unique attributes within the Pan-Asian genetic landscape |
poster |
|
Liu, Lingjie |
Probabilistic and machine-learning methods for predicting local rates of transcription elongation from nascent RNA sequencing data |
poster |
|
Lizarazo, Simon |
A multi-tissue and cancer atlas of Pol III activity uncovers context-specific transcriptional expansion to genes implicated in disease progression |
poster |
|
Loell, Kaiser |
Learning genotype-phenotype maps from genome-wide datasets |
poster |
|
Loh, Po-Ru |
Influences of genomic structural variation on human complex traits |
talk |
|
Longtin, Amy |
An optimized, multiplexed EM-seq protocol for cost-effective DNA methylation measurements |
poster |
|
Lu, Chang |
Genetic insights from spatially resolved analysis of the human left ventricle |
talk |
|
Lu, Jui-Hsien (Rita) |
Improving diagnostic yields of cancer predisposing variants in diverse populations |
poster |
|
Lu, Zeyun |
Improved multi-ancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk |
poster |
|
Lulla, Suchita |
Next-generation map of constrained coding regions from hundreds of thousands of humans |
poster |
|
Mallett, Shayna L |
VISTA-seq—A method for accurate somatic variant detection from barcoded duplex libraries |
poster |
|
Mantri, Padmaja |
Passenger mutations link cellular origins and transcriptional identity in human lung adenocarcinoma |
poster |
|
Martin, Hilary |
Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions |
talk |
|
Matos, Marliette |
Understanding inter-individual cellular and transcriptional regulatory changes in human aging |
poster |
|
Matthews, Elizabeth R |
Anthracyclines induce cardiotoxicity through a shared gene expression response signature |
poster |
|
McCoy, Rajiv C |
Sources of gene expression variation in a globally diverse human cohort |
talk |
|
McGinty, Sean P |
Gene expression diversity across human structural haplotypes at chromosome 15q13.3 |
poster |
|
Michalettou, Theodora-Dafni |
Effect of age, sex and time on the genetic regulation of molecular phenotypes |
poster |
|
Miga, Karen H |
Expanding maps of archaic DNA variants within centromere-spanning haplotypes in complete, telomere-to-telomere (T2T) genomes of modern humans |
talk |
|
Miller, Danny E |
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation |
poster |
|
Mishra, Subrata |
Can the introduction of gene flow, at varying timings and degrees, incur a fitness cost to well-adapted populations? |
poster |
|
Missarova, Alsu |
Towards understanding functional timeline of disease progression |
poster |
|
Molotkov, Ivan |
Analysis of non-additive genetic effects in aging-related traits in FinnGen identifies 21 novel disease loci |
poster |
|
Morrissey, Alexis |
Characterizing regulatory conservation at paralogous gene families utilizing multi-mapped reads and the T2T genome assembly |
poster |
|
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 |
Natural selection causes association studies to prioritize variant specificity over variant impact |
poster |
|
Mouratidis, Ioannis |
kmerDB—A database encompassing the set of genomic and proteomic sequence information for each species |
poster |
|
Natri, Heini |
Single-cell transcriptomics reveals SPP1+ macrophages as a key mediator of resistance against CAR T cell therapy in solid tumors |
talk |
|
Navarro Gonzalez, Jairo |
Viewing HPRC data on the UCSC Genome Browser |
poster |
|
Neville, Matthew |
Sperm sequencing reveals extensive positive selection in the human germline |
talk |
|
Nirmalan, Shreya |
Microbiome and host genetic effects on gene regulation in inflammatory bowel disease |
poster |
|
O'Leary, Nuala |
NCBI Datasets—An innovative resource for finding and downloading NCBI sequence and metadata for organisms across the tree of life |
poster |
|
Olson, Andrew |
Gramene—A comparative resource on plant reference genomes, pan-genomes and pathways |
poster |
|
Omidsalar, Audrey A |
Mitochondrial DNA deletions, copy number, SNVs and GWAS in the North American Brain Expression Consortium WGS Dataset |
poster |
|
Ouyang, Juan |
A strategy to identify functionally relevant DNA methylation abnormalities in neurons |
poster |
|
Pal, Atreyo |
The functional role of human accelerated regions during human and chimpanzee neurodevelopment |
poster |
|
Palenikova, Petra |
Building cell-type-specific protein-protein interaction networks of transcription factors and general cofactors to study gene regulation programs |
poster |
|
Panda, Arijit |
Genome-wide analysis and visualization of copy number with CNVpytor in igv.js |
poster |
|
Panten, Jasper |
Modeling allelic imbalance at single-cell resolution reveals insights into gene regulation and X chromosome inactivation |
poster |
|
Park, Hyunjin |
Genomic fingerprinting reveals DNA element expansion during development |
poster |
|
Parts, Leopold |
Can AI predict how human cells interpret dinosaur DNA? |
poster |
|
Pasaniuc, Bogdan |
Calibration of polygenic scores in precision medicine |
talk |
|
Pasquesi, Giulia Irene Maria |
Transposable elements generate new human immune gene protein-coding splice variants |
talk |
|
Pavlovic, Katarina |
Mobile element contribution to chromatin looping variability in human and mouse genomes |
poster |
|
Perez-Lluch, Silvia |
The epigenetic logic of gene activation |
poster |
|
Perteghella, Tamara |
GENCODE—Uncovering and cataloguing the human transcriptome complexity |
talk |
|
Petersen, Rachel M |
Applying multiplexed mSTARR-seq to understand genetic effects on regulatory element function |
poster |
|
Pflughaupt, Patrick |
Towards the genomic sequence code of DNA fragility |
poster |
|
Phan, Lon |
GrafPop—A versatile tool for human ancestry inference and beyond |
poster |
|
Phanstiel, Douglas |
Response eQTLs and 3D chromatin structure in human chondrocytes identify putative osteoarthritis risk genes |
poster |
|
Phillippy, Adam M |
Towards the inference of complete, personalized human genomes |
poster |
|
Pierotti, Saul |
Extensive Gene x Environment interactions in the outbred vertebrate genetics of a standard physiological phenotype |
poster |
|
Poyraz, Pelin |
Interspecific hybrid incompatibilities are common and well resolved between two species of silk moths |
poster |
|
Qiao, Yi |
Instantaneous sequence analysis for time-critical clinical applications |
poster |
|
Rajesh, Chandana |
Uncovering higher-order motif interactions from inherently interpretable deep neural networks for functional genomics data with HOMININ |
poster |
|
Ramachandran, Sohini |
Family ties—Methodological challenges and opportunities generated by relatives in biobanks |
talk |
|
Ramalingam, Vivekanandan |
The dynamic cis-regulatory code of transcriptional regulation of the human and mouse genome |
talk |
|
Rastogi, Ruchir |
Finetuning sequence-to-expression deep learning models on personalized genome sequences |
talk |
|
Rausch, Dylan M |
Delineating leptin regulated hypothalamic feeding circuits with single cell transcriptomics |
poster |
|
Rhie, Arang |
Using T2T-CHM13 as an alternate human genome reference |
poster |
|
Rickelton, Katherine |
Exploring primate brain evolution—Transcriptomic profiling from 18 species reveal brain region-specific divergences |
poster |
|
Rodriguez Flores, Juan L |
Exploring the potential of protein domain-specific burden tests to unveil insights into protein function and association with disease risk |
poster |
|
Roskes, Jeffrey S |
Early, effector CD8+FoxP3+ cells and their topology associate with response to neoadjuvant anti-PD-1-based therapy in patients with non-small cell lung carcinoma (NSCLC) |
poster |
|
Roskes, Marjorie L |
Heterogeneity of castration resistant prostate cancer in tissue and liquid biopsy |
poster |
|
Rostami, Mahboubeh |
Pharmacogenomic analysis of 15,000 sequenced genomes aimed at improving ICU treatment decisions in the Middle East |
poster |
|
Roy, Ananya |
Harnessing evolutionary constraints identifies potential non-coding drivers in brain tumours |
poster |
|
Rozowsky, Joel |
Predicting allele-specific effects using a transformer model trained on the local sequence context |
poster |
|
Ruiz Morales, Elias |
Acute response to pathogens in the early human placenta at single cell resolution |
poster |
|
Ruzickova, Natalia |
Interpretable genomic predictions via effect propagation in gene regulatory networks |
poster |
|
Santana Garcia, Walter |
Assessing the interplay of 5hmC and 5mC in medaka brain tissues using Nanopore Duplex sequencing |
poster |
|
Schatz, Michael |
BioDIGS—BioDiversity and Informatics for Genomics Scholars |
talk |
|
Scheben, Armin |
Constraint and divergence in the noncoding genomes of maize and related grasses |
poster |
|
Sederman, Casey |
ScreenDL—A novel deep learning framework integrating tumor omics and functional drug screening for personalized precision treatment selection |
poster |
|
Sen, Arko |
Determining the underlying causes of recurrent gene deregulation in high-risk neuroblastomas. |
poster |
|
Serrano Colome, Claudia |
Mutational signature decomposition with deep neural networks reveals origins of clock-like processes and hypoxia dependencies |
poster |
|
Shakya, Pallavi |
A chromosome-scale genome assembly reveals novel chromosomal end repeats in a parasitic nematode |
poster |
|
Sherpa, Rintsen N |
Towards capturing a complete functional variant space with RegulomeDB using multi-label machine learning |
poster |
|
Shichino, Shigeyuki |
TAS-Seq2 is a sensitive cDNA amplification system for single-cell RNA-seq |
poster |
|
Si, Yichen |
FICTURE—Segmentation-free factor analysis for sub-micron resolution spatial transcriptomics |
talk |
|
Simons, Yuval B |
The great human mutagenesis experiment—Explosive population growth gives rise to ultra-rare variants at every neutral site in the human genome |
talk |
|
Soltys, Volker |
Trans-ience vs. per-cis-tence—Single-cell multiomics identifies cis-regulatory changes as the driver of regulatory evolution across Mus |
talk |
|
Song, Nina (Jiarong) |
An image-aware deep learning method for enhancing spatial transcriptomics analysis |
poster |
|
Song, Yuyao |
Constructing a cross-species knowledge graph of the cell type pattern of gene expression |
poster |
|
Spealman, Pieter |
Divergence in gene expression across multiple levels in long term experimental evolution |
poster |
|
Stojanov, Petar |
Variation and regulatory mechanisms of the small RNA transcriptome across human tissues |
poster |
|
Stoliarova, Anastasiia |
Comparing patterns of negative selection shaping genetic diversity in human and chimpanzee |
poster |
|
Stull, Caleb |
Encouraging reproducibility—A bioinformatic pipeline for scaling single-cell/single-nuclei RNA-seq analyses |
poster |
|
Su, Jiayu |
Detecting spatial alternative splicing patterns in spatial transcriptomics using generalized linear models |
poster |
|
Sudmant, Peter |
Global diversity, recurrent evolution, and recent selection on amylase structural haplotypes in humans |
poster |
|
Sutherland, Chandler |
Contributions of mutation and selection to the rapid evolution of plant innate immune receptors |
talk |
|
Swain, Ian |
Analysis of gene expression and histological differences in tumor and adjacent non-tumor intestinal tissue after iron supplementation in a murine model of human colon cancer |
poster |
|
Tang, Lijing |
Revisiting imprinted domains in cattle by integrating transcriptomic and epigenomic data across tissues |
poster |
|
Tassia, Michael G |
Telomere shortening limits the evolution of somatic mutations in clonal hematopoiesis |
talk |
|
Tautz, Diethard |
Plasticity, noise and evolutionary dynamics of alternative RNA splicing |
poster |
|
Tewhey, Ryan |
Functional dissection of complex and molecular trait variants at single nucleotide resolution |
talk |
|
Teyssandier, Jean |
Using the 6-base genome, genetics, 5-mC and 5-hmC, to gain multimodal insights into genome organisation and gene regulation |
poster |
|
Tiwari, Sarthak |
A DNA sequence foundation model for cell-type-specific prediction of human cis-regulatory elements |
poster |
|
Totty, Michael |
Transcriptomic diversity of basolateral amygdala cell types across humans and non-human primates |
poster |
|
Trancoso, Fernanda F |
The evolution of gene expression noise across yeast species |
poster |
|
Trowbridge, Sara K |
Human genetic variation in neuronal activity-regulated enhancers |
talk |
|
Tsambos, Georgia |
Analysis of spectral signatures in the BXD mice reveals the polygenicity of germline mutagenesis |
poster |
|
Tu, Xinming |
Deep genomics models for personal gene expression prediction |
poster |
|
Usoltsev, Dmitrii |
Understanding complex trait susceptibilities and ethnic diversity in a sample of 4,145 Russians through analysis of clinical and genetic data |
poster |
|
uz-Zaman, Md Hassan |
Emergence and persistence of proto-genes in Escherichia coli across experimental and natural evolutionary timescales |
talk |
|
Vanderstichele, Thomas A |
Misexpression of inactive genes in whole blood is associated with nearby structural variants |
poster |
|
Vilgalys, Tauras P |
Immunogenetic pleiotropy in the response to Yersinia pestis |
poster |
|
Villani, Flavia |
Pangenome reconstruction in rats enhances genotype-phenotype mapping and novel variant discovery |
poster |
|
Vinuela, Ana |
Direct long-read RNA sequencing uncovers functional variation affecting transcript production and RNA modification |
talk |
|
Wang, Austin |
Characterizing species-specific regulation of cardiac development with deep learning models |
talk |
|
Wang, Huanwei |
Pitfalls in estimating SNP-based heritability for singleton genetic variants |
poster |
|
Wang, Lingfei |
Airqtl—Accurate single-cell eQTL mapping under a dollar |
poster |
|
Wang, Meng |
Comprehensive characterization of transcript isoform in the mouse and human retina with long-read single-cell RNA sequencing |
poster |
|
Wang, Yifan |
Characterization of enhancer activity in early human neurodevelopment using Massively Parallel Reporter Assay (MPRA) and forebrain organoids |
poster |
|
Wang, Zishan |
Master regulators governing protein abundance across ten human cancer types |
poster |
|
Ward, Alistair N |
The CDDRC visualization platform for multi-organism, multi-omics data analysis |
poster |
|
Ward, Luke D |
Diverse applications of biobank-scale exome sequencing data for discovery and development of RNAi therapeutics |
poster |
|
Watowich, Marina M |
Effects of age and lifestyle on clonal hematopoiesis of indeterminate potential across three subsistence-level societies |
poster |
|
Wei, Xinzhu "April" |
Inferring genotype representation graph of a million genomes |
poster |
|
Welz, Bettina |
Discovery and functional validation of Gene x Environment interaction effects on medaka heart rate in response to temperature changes |
poster |
|
Wengert, Simon |
Investigating tissue specific apparent mtDNA heteroplasmy and its relationship with human ageing and mtDNA gene expression |
talk |
|
Woerner, Jakob |
Network analysis of quantitative endophenotypes for complex disease risk assessment |
poster |
|
Wojciechowicz, Megan L |
MAVEN—Predicting protein variant functionality by leveraging and integrating multiplexed assays of variant effect (MAVE) |
poster |
|
Xu, Kayla |
Integrated long-read and short-read mRNA-seq analysis for novel isoform discovery in Parkinson’s disease |
poster |
|
Xu, Ziqi |
Leveraging intra-subject variation in linear mixed models to estimate heritability of gene expression in single cell RNA-sequencing data |
poster |
|
Yan, Stephanie M |
A high-resolution view of human gene expression and splicing diversity with long-read sequencing |
poster |
|
Yang, Lei |
Pangenome reference assemblies reveal the variation and recent activity of human LINE-1 retrotransposons |
poster |
|
Yilmaz, Feyza |
Characterization of amylase structural haplotypes and insights into the genetic variation of amylase genes using optical mapping and long-read sequencing |
poster |
|
Yuan, Dong |
perturbVI—A scalable latent factor model to infer regulatory modules from large-scale CRISPR perturbation data |
talk |
|
Zeberg, Hugo |
Low cognition scores of Neandertal gene variants in present-day Europeans |
poster |
|
Zhai, Jingjing |
Prioritization of causal variants using a pre-trained DNA language model in plants |
poster |
|
Zhang, Xiang |
Building a functional map from a human reference genetic interaction network |
poster |
|
Zhang, Zixuan |
Scalable count-based models improve power and robustness to detect eQTLs in large-scale single-cell data |
poster |
|
Zhao, Yixin |
Model-based characterization of the equilibrium dynamics of transcription initiation and promoter-proximal pausing in human cells |
poster |
|
Zhong, Guojie |
PreMode—A deep graph learning model for multi-dimensional prediction of functional effects of protein variants |
poster |
|
Zhou, Chengxin |
Evaluation of synaptic connectivity and dysfunction in aging mouse brains using a RNAscope multiomic spatial imaging assay (MSIA) that detects RNA, proteins and protein-protein interactions |
poster |
|
Zhou, Jessica |
Using ensemble distillation to evaluate the uncertainty of predictions from deep learning models for genomic sequences |
poster |