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

ABSTRACT:

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 evaluated a large, curated reference alignment of complete mtDNA sequences as part of a pipeline for imputing missing mtDNA single nucleotide variants (mtSNVs). We call our reference alignment and pipeline MitoImpute.

Results

We aligned the sequences of 36,960 complete human mitochondrial genomes downloaded from GenBank, filtered and controlled for quality. These sequ

SUBMITTER: McInerney TW 

PROVIDER: S-EPMC8409003 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature