Parson, Walther ORCID: 0000-0002-5692-2392, Ballard, David, Budowle, Bruce ORCID: 0000-0003-4116-2930, Butler, John M., Gettings, Katherine B., Gill, Peter, Gusmao, Leonor ORCID: 0000-0003-0432-6481, Hares, Douglas R., Irwin, Jodi A., King, Jonathan L., de Knijff, Peter ORCID: 0000-0002-0899-771X, Morling, Niels ORCID: 0000-0002-9463-5087, Prinz, Mechthild, Schneider, Peter M. ORCID: 0000-0003-0744-2349, Van Neste, Christophe ORCID: 0000-0002-5958-5731, Willuweit, Sascha ORCID: 0000-0003-1844-8375 and Phillips, Christopher ORCID: 0000-0002-9601-0128 (2016). Massively parallel sequencing of forensic STRs: Considerations of the DNA commission of the International Society for Forensic Genetics (ISFG) on minimal nomenclature requirements. Forensic Sci. Int.-Genet., 22. S. 54 - 64. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

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Abstract

The DNA Commission of the International Society for Forensic Genetics (ISFG) is reviewing factors that need to be considered ahead of the adoption by the forensic community of short tandem repeat (STR) genotyping by massively parallel sequencing (MPS) technologies. MPS produces sequence data that provide a precise description of the repeat allele structure of a STR marker and variants that may reside in the flanking areas of the repeat region. When a STR contains a complex arrangement of repeat motifs, the level of genetic polymorphism revealed by the sequence data can increase substantially. As repeat structures can be complex and include substitutions, insertions, deletions, variable tandem repeat arrangements of multiple nucleotide motifs, and flanking region SNPs, established capillary electrophoresis (CE) allele descriptions must be supplemented by a new system of STR allele nomenclature, which retains backward compatibility with the CE data that currently populate national DNA databases and that will continue to be produced for the coming years. Thus, there is a pressing need to produce a standardized framework for describing complex sequences that enable comparison with currently used repeat allele nomenclature derived from conventional CE systems. It is important to discern three levels of information in hierarchical order (i) the sequence, (ii) the alignment, and (iii) the nomenclature of STR sequence data. We propose a sequence (text) string format the minimal requirement of data storage that laboratories should follow when adopting MPS of STRs. We further discuss the variant annotation and sequence comparison framework necessary to maintain compatibility among established and future data. This system must be easy to use and interpret by the DNA specialist, based on a universally accessible genome assembly, and in place before the uptake of MPS by the general forensic community starts to generate sequence data on a large scale. While the established nomenclature for CE-based STR analysis will remain unchanged in the future, the nomenclature of sequence-based STR genotypes will need to follow updated rules and be generated by expert systems that translate MPS sequences to match CE conventions in order to guarantee compatibility between the different generations of STR data. (C) 2016 Elsevier Ireland Ltd. All rights reserved.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Parson, WaltherUNSPECIFIEDorcid.org/0000-0002-5692-2392UNSPECIFIED
Ballard, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Budowle, BruceUNSPECIFIEDorcid.org/0000-0003-4116-2930UNSPECIFIED
Butler, John M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gettings, Katherine B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gill, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gusmao, LeonorUNSPECIFIEDorcid.org/0000-0003-0432-6481UNSPECIFIED
Hares, Douglas R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Irwin, Jodi A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
King, Jonathan L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Knijff, PeterUNSPECIFIEDorcid.org/0000-0002-0899-771XUNSPECIFIED
Morling, NielsUNSPECIFIEDorcid.org/0000-0002-9463-5087UNSPECIFIED
Prinz, MechthildUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schneider, Peter M.UNSPECIFIEDorcid.org/0000-0003-0744-2349UNSPECIFIED
Van Neste, ChristopheUNSPECIFIEDorcid.org/0000-0002-5958-5731UNSPECIFIED
Willuweit, SaschaUNSPECIFIEDorcid.org/0000-0003-1844-8375UNSPECIFIED
Phillips, ChristopherUNSPECIFIEDorcid.org/0000-0002-9601-0128UNSPECIFIED
URN: urn:nbn:de:hbz:38-277611
DOI: 10.1016/j.fsigen.2016.01.009
Journal or Publication Title: Forensic Sci. Int.-Genet.
Volume: 22
Page Range: S. 54 - 64
Date: 2016
Publisher: ELSEVIER IRELAND LTD
Place of Publication: CLARE
ISSN: 1878-0326
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
HUMAN MITOCHONDRIAL-DNA; PROFILING GROUP EDNAP; TANDEM REPEAT LOCI; NEXT-GENERATION; ALLELES; GUIDELINES; PCR; IDENTIFICATION; POLYMORPHISM; CONCORDANCEMultiple languages
Genetics & Heredity; Medicine, LegalMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/27761

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