Author
Broad InstituteORCID 0000-0001-8263-2455Unclaimed ORCID profile · follow to get notified of new preprints
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5 papers
Recent·Most cited
Rahul Gupta, Timothy Durham, Grant Chau…·Vamsi Krishna Mootha
The paper investigates the mechanism of age-related mtDNA mutation accumulation in human blood using whole genome sequences, revealing a two-step process involving cryptic mutations and clonal expansion.
Konrad J. Karczewski, Rahul Gupta, Masahiro Kanai…·Alicia R. Martin
Meta-analyzing per-ancestry GWAS of 7,266 UK Biobank traits across six genetic ancestry groups adds 14,676 loci missed by European-only analysis, including ancestry-enriched CAMK2D and G6PD signals.
Sophie Wharrie, Zhiyu Yang, Vishnu Raj…·Andrea Ganna
HAPNEST generates and evaluates large-scale synthetic genotype and phenotype datasets for polygenic risk score analysis.
Rahul Gupta, Masahiro Kanai, Timothy Durham…·Vamsi Krishna Mootha
Blood whole genomes from 274,832 people yield 92 independent nuclear signals for mtDNA copy number and 42 for inherited heteroplasmy levels, implicating mtDNA replication machinery.
Rahul Gupta, Konrad J. Karczewski, Daniel P. Howrigan…·Vamsi Krishna Mootha
The paper investigates the genetic contribution of organelles to age-related traits and finds that nuclear transcription factors have a greater influence on disease risk than other organelles.