Our lab strives to unlock the full potential of genomic data for genomic medicine: given near-complete genomic information from a patient, what can we reliably infer to improve their clinical care? We pursue this goal by developing foundational, scalable, and interpretable computational frameworks that guide us through the full 'genomic medicine cycle' – beginning with the discovery of disease-associated variants (variant-to-disease), progressing toward understanding their molecular mechanisms (variant-to-function), and culminating in translating these insights into improved patient care (variant-to-care).
Harvard Medical School
Boston
Instructor - Statistical Genetics
2025
Massachusetts General Hospital
Boston
Postdoc - Statistical Genetics
2024
Cornell University
Ithaca
PhD - Systems Biology
2020
Genome-wide association meta-analyses of drug-resistant epilepsy.
Genome-wide association meta-analyses of drug-resistant epilepsy. EBioMedicine. 2025 May; 115:105675.
PMID: 40240269
Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses.
Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses. Nat Protoc. 2025 Sep; 20(9):2372-2382.
PMID: 40155705
Large Context, Deeper Insights: Harnessing Large Language Models for Advancing Protein-Protein Interaction Analysis.
Large Context, Deeper Insights: Harnessing Large Language Models for Advancing Protein-Protein Interaction Analysis. Methods Mol Biol. 2025; 2941:243-267.
PMID: 40601262
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes. Nat Neurosci. 2024 Oct; 27(10):1864-1879.
PMID: 39363051
A genomic mutational constraint map using variation in 76,156 human genomes.
A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024 Jan; 625(7993):92-100.
PMID: 38057664
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nat Genet. 2023 09; 55(9):1471-1482.
PMID: 37653029
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population. Am J Hum Genet. 2023 07 06; 110(7):1110-1122.
PMID: 37369202
A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.
A full-proteome, interaction-specific characterization of mutational hotspots across human cancers. Genome Res. 2022 01; 32(1):135-149.
PMID: 34963661
De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types.
De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types. Mol Autism. 2020 10 08; 11(1):76.
PMID: 33032641
BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain.
BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Cell Syst. 2020 04 22; 10(4):333-350.e14.
PMID: 32325033