Considering DNA damage when interpreting mtDNA heteroplasmy in deep sequencing data

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• 作者：Molly M. Rathbun^a ; Jennifer A. McElhoe^a ; Walther Parson^a ; ^b ; Mitchell M. Holland^a ; ^{mmh20@psu.edu}
• 关键词：Mitochondrial DNA ; Control region ; Heteroplasmy ; Massively parallel sequencing ; DNA damage
• 刊名：Forensic Science International: Genetics
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：26
• 期：Complete
• 页码：1-11
• 全文大小：1052 K
• 卷排序：26

文摘

Miscoding lesions accumulate as storage condition and targeted DNA damage worsens. The majority of miscoding lesions have a 1–2% minor variant frequency. Miscoding lesions are typically not replicated from the same DNA extract. Miscoding lesions reduce the mtDNA heteroplasmy transition:transversion ratio. Sequences with DNA damage may require modified heteroplasmy reporting thresholds.