A globally diverse reference alignment and panel for imputation of mitochondrial DNA variants
Tim W. McInerney, Brian Fulton‐Howard, Christopher Patterson, Devashi Paliwal, Lars Sommer Jermiin, Hardip R. Patel, Judy Pa, Russell Howard Swerdlow, Alison Goate, Simon Easteal, Shea J. Andrews, Alzheimer’s Disease Neuroimaging Initiative
The paper develops a method to impute missing mitochondrial DNA variants using a large reference alignment, improving haplogroup assignment and enabling better integration of mtDNA data from different sources.
BMC Bioinformatics · Sep 1, 2021Peer-reviewedGenomics