Topic · Molecular Biology · Biochemistry, Genetics and Molecular Biology

Mitochondrial Function and Pathology

OpenAlex topic; a paper is listed when OpenAlex scores it at least 0.5 for this topic.

Genetic & Genomic Medicine·NaturePeer-reviewed·Aug 16, 2023
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Nuclear genetic control of mtDNA copy number and heteroplasmy in humans
Rahul Gupta, Masahiro Kanai, Timothy Durham…+8 more authors·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.
193 citationstop 1%
human·whole-genome sequencing
·𝕏 Post·Bluesky