Massively parallel sequencing of forensically relevant single nucleotide polymorphisms using TruSeq (TM) forensic amplicon

作者：Warshauer David H; Davis Carey P; Holt Cydne; Han Yonmee; Walichiewicz Paulina; Richardson Tom; Stephens Kathryn; Jager Anne; King Jonathan; Budowle Bruce^*

来源：International Journal of Legal Medicine, 2015, 129(1): 31-36.

DOI：10.1007/s00414-014-1108-8

• TruSeq custom amplicon
• Massively parallel sequencing
• Ancestry informative markers
• Phenotypic SNPs

The TruSeq (TM) Forensic Amplicon library preparation protocol, originally designed to attach sequencing adapters to chromatin-bound DNA for chromatin immunoprecipitation sequencing (TruSeq (TM) ChIP-Seq), was used here to attach adapters directly to amplicons containing markers of forensic interest. In this study, the TruSeq (TM) Forensic Amplicon library preparation protocol was used to detect 160 single nucleotide polymorphisms (SNPs), including human identification SNPs (iSNPs), ancestry, and phenotypic SNPs (apSNPs) in 12 reference samples. Results were compared with those generated by a second laboratory using the same technique, as well as to those generated by whole genome sequencing (WGS). The genotype calls made using the TruSeq (TM) Forensic Amplicon library preparation protocol were highly concordant. The protocol described herein represents an effective and relatively sensitive means of preparing amplified nuclear DNA for massively parallel sequencing (MPS).

• 出版日期2015-1