A Protocol for mtGenome Analysis on Large Sample Numbers

The mitochondrial genome is widely studied in a variety of fields, such as population, forensic, and human and medical genetics. Most studies have been limited to a small portion of the sequence that, although highly diverse, does not describe the total variability. The arrival of modern high-throug...

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Bibliographic Details
Published in:Bioinformatics and Biology Insights 2014-01, Vol.2014 (8), p.127-134
Main Authors: Hamoy, Igor G., Ribeiro-Dos-Santos, André M., Alvarez, Luiz, Barbosa, Silvanira, Silva, Artur, Santos, Sidney, Gusmão, Leonor, Ribeiro-Dos-Santos, ândrea
Format: Article
Language:English
Subjects:
Criminal investigation
Genetic polymorphisms
Genomes
Genomics
Medical genetics
Mitochondrial DNA
Original Research
Population genetics
Statistics
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Summary:The mitochondrial genome is widely studied in a variety of fields, such as population, forensic, and human and medical genetics. Most studies have been limited to a small portion of the sequence that, although highly diverse, does not describe the total variability. The arrival of modern high-throughput sequencing technologies has made it possible to investigate larger sequences in a shorter amount of time as well as in a more affordable fashion. This work aims to describe a protocol for sequencing and analyzing the complete mitochondrial genome with the Ion PGM™ platform. To evaluate the protocol, the mitochondrial genome was sequenced to approximately 210 Mbp, with high-quality sequences distributed between 12 samples that had an average coverage of 1023× per sample. Several variant callers were compared to improve the protocol outcome. The results suggest that it is possible to run up to 120 samples per run without any loss of any significant quality. Therefore, this protocol is an efficient and accurate tool for full mitochondrial genome analysis.
ISSN:1177-9322
1177-9322
DOI:10.4137/BBI.S14623