Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data

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Authors

Maria Angela Diroma · University of Bari Aldo Moro

Claudia Calabrese · University of Bologna

Domenico Simone · University of Calgary

Mariangela Santorsola · University of Bari Aldo Moro

Francesco Maria Calabrese · University of Bari Aldo Moro

Giuseppe Gasparre · University of Bologna

Marcella Attimonelli

Abstract

To the best of our knowledge, this is likely the most extended population-scale mitochondrial genotyping in humans enriched with the estimation of heteroplasmies.

Topics & Keywords

Mitochondrial Function and Pathology Genomics and Phylogenetic Studies Metabolism and Genetic Disorders

Publication Details

Published in: BMC Genomics

Volume 15, Issue S3, pp. S2-S2

DOI: 10.1186/1471-2164-15-s3-s2

Field-Weighted Citation Impact: 3.99

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Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data

Authors

Abstract

Topics & Keywords

Publication Details