Article

Mitochondrial DNA variation across 56,434 individuals in gnomAD

2021-07-23

Abstract excerpt

<h4>ABSTRACT</h4> Databases of allele frequency are extremely helpful for evaluating clinical variants of unknown significance; however, until now, genetic databases such as the Genome Aggregation Database (gnomAD) have ignored the mitochondrial genome (mtDNA). Here we present a pipeline to call mtDNA variants that addresses three technical challenges: (i) detecting homoplasmic and heteroplasmic variants, present...

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Literature Corpus work: 6e6fdead-e507-5641-b545-a2403c5731d3
DOI: 10.1101/2021.07.23.453510

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