Article
A globally diverse reference alignment and panel for imputation of mitochondrial DNA variants.
BMC bioinformatics - 1 Sept 2021
McInerney Tim W, Fulton-Howard Brian, Patterson Christopher, Paliwal Devashi, Jermiin Lars S, Patel Hardip R, Pa Judy, Swerdlow Russell H, Goate Alison, Easteal Simon, Andrews Shea J
Abstract excerpt
BACKGROUND: Variation in mitochondrial DNA (mtDNA) identified by genotyping microarrays or by sequencing only the hypervariable regions of the genome may be insufficient to reliably assign mitochondrial genomes to phylogenetic lineages or haplogroups. This lack of resolution can limit functional and clinical interpretation of a substantial body of existing mtDNA data. To address this limitation, we developed and...
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