Article
Penetrance and expressivity of mitochondrial variants in a large clinically unselected population.
Human molecular genetics - 18 Feb 2024
Cannon Stuart J, Hall Timothy, Hawkes Gareth, Colclough Kevin, Boggan Roisin M, Wright Caroline F, Pickett Sarah J, Hattersley Andrew T, Weedon Michael N, Patel Kashyap A
Abstract excerpt
Whole genome sequencing (WGS) from large clinically unselected cohorts provides a unique opportunity to assess the penetrance and expressivity of rare and/or known pathogenic mitochondrial variants in population. Using WGS from 179 862 clinically unselected individuals from the UK Biobank, we performed extensive single and rare variant aggregation association analyses of 15 881 mtDNA variants and 73 known...
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