University of Washington at ASHG 2026 in Montréal: 39 presentations (27 posters, 6 platform talks, 3 featured symposia); 26 research groups; an exhibit booth.
Studies human genomics using exome and whole-genome sequencing, DNA extraction and quantification. Supports rare-disease diagnosis and precision genetic medicine with families, clinicians and researchers.
54 papers since 2024
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Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition
Nature Genetics, 2025
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
The Journal of Experimental Medicine, 2024
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications
Analyzes GWAS, sequence data and summary statistics from dbGaP and UK Biobank. Studies shared genetic origins of cancer and gene-environment effects on disease risk.
43 papers since 2024
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Genetic risk, health-associated lifestyle, and risk of early-onset total cancer and breast cancer
JNCI Journal of the National Cancer Institute, 2024
Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk
Cancer Epidemiology Biomarkers & Prevention, 2024
A study protocol of the effectiveness of the Attempted Suicide Short Intervention Program (ASSIP) for recent suicide attempters: a randomized controlled trial
Develops Fiber-seq with m6A-MTases and PacBio circular consensus sequencing for chromatin and epigenome profiling. Applies patient-specific epigenetic data to rare genetic conditions and clinical genomics.
80 papers since 2024
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ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, 2025
The Somatic Mosaicism across Human Tissues Network
Nature, 2025
Single-nucleoid architecture reveals heterogeneous packaging of mitochondrial DNA
Uses ONT and PacBio long-read DNA/RNA sequencing for Mendelian disease, methylation and structural-variation analysis. Works with the 1000 Genomes Project and clinical cases.
26 papers since 2024
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Are family firms green?
Small Business Economics, 2024
CEO Religion and Corporate Social Responsibility: A Socio-behavioral Model
Oxford Nanopore Technologies (ONT) platform, PromethION, PacBio, Direct RNA sequencing, Targeted genome sequencing / adaptive sampling, SQK-LSK114 ligation library preparation, SQK-RNA004 direct RNA library preparation, QIAsymphony DSP DNA Midi Kit
Techniques
Long-read DNA and RNA sequencing, Methylation calling, Structural-variant discovery and prioritization, Repeat-expansion detection, Fibroblast and lymphoblastoid cell culture, Variant calling and phasing
Uses highly sensitive sequencing for tissue, blood and cfDNA somatic-mutation testing, including VANseq and exome sequencing. Studies vascular malformations, birth defects and craniofacial microsomia.
24 papers since 2024
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The Somatic Mosaicism across Human Tissues Network
Nature, 2025
Somatic epimutations cap genetic determinism in the human diploid chromatin epigenome
bioRxiv (Cold Spring Harbor Laboratory), 2024
Deaminase-assisted single-molecule and single-cell chromatin fiber sequencing
Analyzes Medicare Part B claims, Open Payments Data and genomic information with decision models, policy evaluation, health economics and statistics. Informs health-care and pharmaceutical policy.
20 papers since 2024
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LncRNA JINR1 regulates miR-216b-5p/ GRP78 and miR-1-3p/ DDX5 axis to promote JEV infection and cell death
Journal of Virology, 2025
Short-chain fatty acids abrogate Japanese encephalitis virus-induced inflammation in microglial cells via miR-200a-3p/ZBTB20/IKβα axis
mBio, 2024
Prophylactic Administration of Gut Microbiome Metabolites Abrogated Microglial Activation and Subsequent Neuroinflammation in an Experimental Model of Japanese Encephalitis
decision modeling, policy evaluation, health economics, statistics, causal inference, machine learning, simulation modeling, value of information analysis, systematic reviews of evidence, real-world data methods
Runs sci-RNA-seq3 and sci-ATAC-seq3 with tissue dissociation, nuclei isolation and bioinformatics. Supports single-cell atlases and Seattle Hub projects with UW, Allen Institute and CZI.
Funded by National Institutes of Health, National Human Genome Research Institute +2 more
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National Institutes of Health, Human Bio-Molecular Atlas Program · active
“The National Institutes of Health’s Human Bio-Molecular Atlas Program”
Runs sci-RNA-seq3 and sci-ATAC-seq3 with tissue dissociation, nuclei isolation and bioinformatics. Supports single-cell atlases and Seattle Hub projects with UW, Allen Institute and CZI.
Funded by National Institutes of Health, National Human Genome Research Institute +2 more
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National Institutes of Health, Human Bio-Molecular Atlas Program · active
“The National Institutes of Health’s Human Bio-Molecular Atlas Program”
Analyzes genome sequencing, proteomics, transcriptomics and genotype data with population genetics and genetic epidemiology methods. Works with ADSP, CMGs, GREGoR and the Pacific Northwest UDN.
54 papers since 2024
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Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition
Nature Genetics, 2025
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
The Journal of Experimental Medicine, 2024
Advancements in APOE and dementia research: Highlights from the 2023 AAIC Advancements: APOE conference
Uses clinical and research informatics with EHR, imaging and genomic data. Improves pediatric care through clinical trials, precision medicine and learning health systems.
20 papers since 2024
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A Conceptual Thematic Framework of Psychological Adjustment in Caregivers of Children with Craniofacial Microsomia
The Cleft Palate-Craniofacial Journal, 2024
Early Experiences of Parents of Children With Craniofacial Microsomia
Journal of Obstetric, Gynecologic & Neonatal Nursing, 2024
“I can't provide what my child needs”: Early feeding experiences of caregivers of children with craniofacial microsomia
Analyzes SMRT and Oxford Nanopore long-read data for structural-variant discovery, phasing and genome assembly. Applies methods to human disease, primate evolution and 1000 Genomes datasets.
111 papers since 2024
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Complete sequencing of ape genomes
Nature, 2025
Genomic data in the All of Us Research Program
Nature, 2024
The variation and evolution of complete human centromeres
Uses genetics to improve non-invasive prenatal screening and study adverse pregnancy outcomes. Focuses on stillbirth, preeclampsia and fetal anomalies.
57 papers since 2024
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Risk of Autism after Prenatal Topiramate, Valproate, or Lamotrigine Exposure
New England Journal of Medicine, 2024
Placental senescence pathophysiology is shared between peripartum cardiomyopathy and preeclampsia in mouse and human
Science Translational Medicine, 2024
Genetic Associations of Circulating Cardiovascular Proteins With Gestational Hypertension and Preeclampsia
Uses whole-genome sequencing, nanopore sequencing and multiomic profiling in genetic epidemiology. Trains students to apply genomics to population health, ethics, law and policy.
Studies neurodegeneration using human cellular models, genomics and multiomic analyses of human brain tissues. Focuses on Alzheimer’s disease, microglia and neuro-immune mechanisms.
67 papers since 2024
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Safety and efficacy of long-term gantenerumab treatment in dominantly inherited Alzheimer's disease: an open-label extension of the phase 2/3 multicentre, randomised, double-blind, placebo-controlled platform DIAN-TU trial
The Lancet Neurology, 2025
Integrated multimodal cell atlas of Alzheimer’s disease
Nature Neuroscience, 2024
APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer’s disease pathology
Develops statistical methods for 10X Multiome RNA/ATAC, whole-genome and biobank data. Uses them to map disease alleles and predict polygenic risk, especially for immune dysfunction.
33 papers since 2024
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Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies
Cell, 2025
Granzyme K activates the entire complement cascade
Nature, 2025
Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference
Develops MAVE assays and runs sci-RNA-seq3 and sci-ATAC-seq3 single-cell profiling experiments. Applies them to clinical variant classification and vertebrate embryogenesis models.
70 papers since 2024
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MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays
Genome biology, 2025
Deciphering the impact of genomic variation on function
Nature, 2024
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
Studies tandem repeats and RNA using long-read, whole-genome and synaptosome sequencing. Develops AAV gene therapy and CRISPR/Cas9 approaches for ALS, Alzheimer’s disease and liver cancer.
16 papers since 2024
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The MUC19 gene: An evolutionary history of recurrent introgression and natural selection
Science, 2025
Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B
The American Journal of Human Genetics, 2024
TREM2 variants that cause early dementia and increase Alzheimer’s disease risk affect gene splicing
Develops quantitative methods for human genetic data, including sequence data, pedigree data and dense genetic markers. Applies them to gene mapping, inheritance and genetic epidemiology.
13 papers since 2024
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White Matter Abnormalities and Cognition in Aging and Alzheimer Disease
JAMA Neurology, 2025
Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer’s disease
Genome biology, 2025
Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data
Builds statistical and machine-learning models for RNA sequencing, long-read, spatial and single-cell sequencing data. Applies them to regulatory genomics, rare disease and complex-trait genetics.
statistical machine learning, probabilistic modeling, mechanistic regulatory modeling, GWAS, eQTL and single-cell eQTL analysis, RNA phenotyping, deep learning and foundation models, TWAS and colocalization