TY - JOUR
T1 - Massively parallel sequencing of forensically relevant single nucleotide polymorphisms using TruSeq™ forensic amplicon
AU - Warshauer, David H.
AU - Davis, Carey P.
AU - Holt, Cydne
AU - Han, Yonmee
AU - Walichiewicz, Paulina
AU - Richardson, Tom
AU - Stephens, Kathryn
AU - Jager, Anne
AU - King, Jonathan
AU - Budowle, Bruce
N1 - Funding Information:
This work was supported in part by award no. 2012-DN-BXK033, awarded by the National Institute of Justice, Office of Justice Programs, US Department of Justice. The opinions, findings, and conclusions or recommendations expressed in this publication are those of the authors and do not necessarily reflect those of the US Department of Justice. The authors also would like to thank Illumina, Inc. for its support during this study.
Publisher Copyright:
© 2014, Springer-Verlag Berlin Heidelberg.
PY - 2014/1
Y1 - 2014/1
N2 - The TruSeq™ Forensic Amplicon library preparation protocol, originally designed to attach sequencing adapters to chromatin-bound DNA for chromatin immunoprecipitation sequencing (TruSeq™ ChIP-Seq), was used here to attach adapters directly to amplicons containing markers of forensic interest. In this study, the TruSeq™ 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™ 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).
AB - The TruSeq™ Forensic Amplicon library preparation protocol, originally designed to attach sequencing adapters to chromatin-bound DNA for chromatin immunoprecipitation sequencing (TruSeq™ ChIP-Seq), was used here to attach adapters directly to amplicons containing markers of forensic interest. In this study, the TruSeq™ 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™ 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).
KW - Ancestry informative markers
KW - Massively parallel sequencing
KW - Phenotypic SNPs
KW - TruSeq custom amplicon
UR - http://www.scopus.com/inward/record.url?scp=84922102381&partnerID=8YFLogxK
U2 - 10.1007/s00414-014-1108-8
DO - 10.1007/s00414-014-1108-8
M3 - Article
C2 - 25408291
AN - SCOPUS:84922102381
SN - 0937-9827
VL - 129
SP - 31
EP - 36
JO - International Journal of Legal Medicine
JF - International Journal of Legal Medicine
IS - 1
ER -