Development and assessment of an optimized next-generation DNA sequencing approach for the mtgenome using the Illumina MiSeq

Highlights • The MiSeq produced reliable and reproducible data using our optimized approach. • Consistently averaged 7.0 Gb output of high quality data (85+% of the reads Q ≥ 30). • NGS results were consistent with Sanger data generated on the same samples. • Deep coverage on the MiSeq allowed for d...

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Bibliographic Details
Published in:Forensic science international : genetics 2014-11, Vol.13, p.20-29
Main Authors: McElhoe, Jennifer A, Holland, Mitchell M, Makova, Kateryna D, Su, Marcia Shu-Wei, Paul, Ian M, Baker, Christine H, Faith, Seth A, Young, Brian
Format: Article
Language:English
Subjects:
DNA, Mitochondrial - genetics
Forensic Genetics - instrumentation
Forensic Genetics - methods
Genome, Human
Genome, Mitochondrial
High-Throughput Nucleotide Sequencing - instrumentation
High-Throughput Nucleotide Sequencing - methods
Humans
Pathology
Sequence Alignment
Sequence Analysis, DNA - instrumentation
Sequence Analysis, DNA - methods
Software
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Summary:Highlights • The MiSeq produced reliable and reproducible data using our optimized approach. • Consistently averaged 7.0 Gb output of high quality data (85+% of the reads Q ≥ 30). • NGS results were consistent with Sanger data generated on the same samples. • Deep coverage on the MiSeq allowed for detection of low-level heteroplasmy. • Minor variants ≥1% easily detected with variants
ISSN:1872-4973
1878-0326
DOI:10.1016/j.fsigen.2014.05.007