Anna V. Kotrys

Jun 3, 2024 | nature.com | Rahul Gupta |Masahiro Kanai |Timothy Durham |Anna V. Kotrys |Wei Zhou |Konrad J Karczewski | +1 more

Correction to: Nature https://doi.org/10.1038/s41586-023-06426-5Published online 16 August 2023When performing a genome-wide association study (GWAS), the choice of which allele (reference vs. alternate) is considered the “effect allele” is arbitrary. In our computations, we chose the reference allele. For a small subset of our results, the effect sizes were erroneously attributed to the alternate allele.

Apr 24, 2024 | nature.com | Anna V. Kotrys |Timothy Durham

AbstractHeteroplasmy occurs when wild-type and mutant mitochondrial DNA (mtDNA) molecules co-exist in single cells1. Heteroplasmy levels change dynamically in development, disease and ageing2,3, but it is unclear whether these shifts are caused by selection or drift, and whether they occur at the level of cells or intracellularly.

Aug 16, 2023 | nature.com | Rahul Gupta |Masahiro Kanai |Timothy Durham |Anna V. Kotrys |Wei Zhou |Konrad J Karczewski | +1 more

AbstractMitochondrial DNA (mtDNA) is a maternally inherited, high-copy-number genome required for oxidative phosphorylation1. Heteroplasmy refers to the presence of a mixture of mtDNA alleles in an individual and has been associated with disease and ageing. Mechanisms underlying common variation in human heteroplasmy, and the influence of the nuclear genome on this variation, remain insufficiently explored.