Article

A globally diverse reference alignment and panel for imputation of mitochondrial DNA variants

2019-05-27

Abstract excerpt

<h4>Background</h4> Variation in mitochondrial DNA (mtDNA) identified by genotyping microarrays or by sequencing only 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...

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Literature Corpus work: 6247acb3-ab6a-5ef1-8f2d-4311e3064212
DOI: 10.1101/649293

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