University of California, San Francisco at ASHG 2026
San Francisco, California
University of California, San Francisco at ASHG 2026 in Montréal: 19 presentations (17 posters, 1 featured symposium, 1 platform talk); 10 research groups.
Uses RNA-seq, ChIP-seq, ATAC-seq, single-cell RNA-seq, single-cell ATAC-seq and MPRA with human samples and mouse/fish genetic engineering. Studies regulatory variation in disease, evolution and therapy.
58 papers since 2024
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Massively parallel characterization of transcriptional regulatory elements
Nature, 2025
Single-cell genomics and regulatory networks for 388 human brains
Science, 2024
Single-cell multi-cohort dissection of the schizophrenia transcriptome
Studies autism using genome-wide association, eQTL, CNV, transcriptomic and clinical data. Uses genetic mechanisms to understand autism risk, sex differences and pregnancy biomarkers.
9 papers since 2024
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Mapping the genetic landscape across 14 psychiatric disorders
Nature, 2025
Examining Sex Differences in Autism Heritability
JAMA Psychiatry, 2024
Relationship between sex biases in gene expression and sex biases in autism and Alzheimer’s disease
Develops computational and AI methods to interpret genetic variation from whole-genome sequences and biobank-linked EHRs. Applies them to rare disease, human evolution and health.
Funded by NIH, CIRM +3 more
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NIH, The Evolution of Gene Regulation and Human Disease · 2018-2029
“The Evolution of Gene Regulation and Human Disease, NIH, 2018-2029”
CIRM, Allele Prospector: Leveraging human genetic variation to enable therapeutic genome editing in hundreds of disease genes · 2026-2029
“Allele Prospector: Leveraging human genetic variation to enable therapeutic genome editing in hundreds of disease genes, CIRM, 2026-2029”
Studies brain vascular malformations with cell-free DNA screening, whole methylome sequencing, methylome arrays and imaging data. Uses UCSF cohorts and BVMC studies to identify biomarkers.
58 papers since 2024
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Guidelines for the Diagnosis and Clinical Management of Cavernous Malformations of the Brain and Spinal Cord: Consensus Recommendations Based on a Systematic Literature Review by the Alliance to Cure Cavernous Malformation Clinical Advisory Board Experts Panel
Neurosurgery, 2025
Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis
The American Journal of Human Genetics, 2024
Mild Hypoxia Accelerates Cerebral Cavernous Malformation Disease Through CX3CR1-CX3CL1 Signaling
Arteriosclerosis Thrombosis and Vascular Biology, 2024
Studies glial biology and proteinopathy using Visium ST, single nucleus RNA sequencing and spatial transcriptomics. Research targets Alzheimer’s disease, tau pathology and vulnerable neurons.
31 papers since 2024
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Type-I-interferon-responsive microglia shape cortical development and behavior
Cell, 2024
Cryo-EM structures reveal tau filaments from Down syndrome adopt Alzheimer’s disease fold
Acta Neuropathologica Communications, 2024
Expanding the Prion Paradigm to Include Alzheimer and Parkinson Diseases
Develops CRISPRi libraries, deep-mutational-scanning platforms and membrane-protein assays. Studies GPCRs, transporters and ion channels for disease mechanisms and therapeutics.
4 papers since 2024
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Accurate variant effect estimation in FACS-based deep mutational scanning data with Lilace
Figshare, 2026
Additional file 1 of Accurate variant effect estimation in FACS-based deep mutational scanning data with Lilace
Analyzes pooled sequencing and RNA-sequencing data with population-genetic simulations. Studies human disease genetics, host-pathogen interactions and the 1000 Genomes Project.
15 papers since 2024
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Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk
Nature Genetics, 2025
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
Genome biology, 2024
Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas
RNA-sequencing, Pooled sequencing, Population-scale sequencing
Techniques
Population genetic simulations, Population genetic modeling, Background-selection models, Phylogenetic and population genetic techniques, Admixture mapping, EHH, iHS and XP-EHH scans, Forward population-genetic simulation, Rhesus macaque, cows and rice
Studies genetic variation and complex traits using population genetics, statistical modeling and multi-omic data. Focuses on evolution, ancestry, molecular phenotypes and treatment response.
5 platforms and techniques
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Analyzes
RNA-sequencing
Techniques
population genetics, statistical modeling, bioinformatic analyses, admixture mapping
Studies cancer susceptibility and treatment response using GWAS, whole-exome sequencing, paired tumor/normal sequencing and RNA-seq. Works with City of Hope on Latina breast-cancer studies.
115 papers since 2024
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Risk-Based vs Annual Breast Cancer Screening
JAMA, 2025
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods