TY - JOUR
T1 - Potential highly polymorphic short tandem repeat markers for enhanced forensic identity testing
AU - Novroski, Nicole M.M.
AU - Woerner, August E.
AU - Budowle, Bruce
N1 - Funding Information:
The authors would like to thank Jonathan King for assistance with Phillips [13] STR marker selection and amplicon design. This work was supported by award no. 2015-DN-BX-K067 (Enhancing Mixture Interpretation with Highly Informative STRs), awarded by the National Institute of Justice, Office of Justice Programs, U.S. 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 U.S. Department of Justice.
Publisher Copyright:
© 2018 Elsevier B.V.
PY - 2018/11
Y1 - 2018/11
N2 - Due to their polymorphic nature, short tandem repeats (STRs) are well-studied and routinely used genetic markers for forensic DNA typing. However, even the largest STR multiplexes are limited in their ability to parse out individuals in a DNA mixture sample, due to alleles shared by size detected by capillary electrophoresis and challenges in resolving minor alleles from stutter, and inherent heterozygote imbalance. In this study, STRs were explored in public datasets that displayed sequence variation and may have limited allele length spread. STRs were first selected using fundamental criteria of high heterozygosity, tetra-, penta-, or hexanucleotide repeat length, and overall relative narrow allele spread (based on length). All candidates were further scrutinized for chemistry compatibility. The resulting STRs were multiplexed and sequenced by massively parallel sequencing in a limited sample population set. Each candidate STR was evaluated for analytical performance and desired biological properties. The findings presented describe a refined set of 53 potential highly polymorphic STR markers (high sequence diversity and heterozygosity; reduced allele spread) that may be suitable to supplement the current core marker set(s) for possible enhanced characterization of complex DNA profiles.
AB - Due to their polymorphic nature, short tandem repeats (STRs) are well-studied and routinely used genetic markers for forensic DNA typing. However, even the largest STR multiplexes are limited in their ability to parse out individuals in a DNA mixture sample, due to alleles shared by size detected by capillary electrophoresis and challenges in resolving minor alleles from stutter, and inherent heterozygote imbalance. In this study, STRs were explored in public datasets that displayed sequence variation and may have limited allele length spread. STRs were first selected using fundamental criteria of high heterozygosity, tetra-, penta-, or hexanucleotide repeat length, and overall relative narrow allele spread (based on length). All candidates were further scrutinized for chemistry compatibility. The resulting STRs were multiplexed and sequenced by massively parallel sequencing in a limited sample population set. Each candidate STR was evaluated for analytical performance and desired biological properties. The findings presented describe a refined set of 53 potential highly polymorphic STR markers (high sequence diversity and heterozygosity; reduced allele spread) that may be suitable to supplement the current core marker set(s) for possible enhanced characterization of complex DNA profiles.
KW - Forensic identification
KW - Massively parallel sequencing
KW - Polymorphisms
KW - Sequence variation
KW - Short tandem repeats
UR - http://www.scopus.com/inward/record.url?scp=85052655078&partnerID=8YFLogxK
U2 - 10.1016/j.fsigen.2018.08.011
DO - 10.1016/j.fsigen.2018.08.011
M3 - Article
C2 - 30176438
AN - SCOPUS:85052655078
SN - 1872-4973
VL - 37
SP - 162
EP - 171
JO - Forensic Science International: Genetics
JF - Forensic Science International: Genetics
ER -