Universität zu Köln

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:	Creators Email ORCID ORCID Put Code Parson, Walther UNSPECIFIED orcid.org/0000-0002-5692-2392 UNSPECIFIED Ballard, David UNSPECIFIED UNSPECIFIED UNSPECIFIED Budowle, Bruce UNSPECIFIED orcid.org/0000-0003-4116-2930 UNSPECIFIED Butler, John M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Gettings, Katherine B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Gill, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Gusmao, Leonor UNSPECIFIED orcid.org/0000-0003-0432-6481 UNSPECIFIED Hares, Douglas R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Irwin, Jodi A. UNSPECIFIED UNSPECIFIED UNSPECIFIED King, Jonathan L. UNSPECIFIED UNSPECIFIED UNSPECIFIED de Knijff, Peter UNSPECIFIED orcid.org/0000-0002-0899-771X UNSPECIFIED Morling, Niels UNSPECIFIED orcid.org/0000-0002-9463-5087 UNSPECIFIED Prinz, Mechthild UNSPECIFIED UNSPECIFIED UNSPECIFIED Schneider, Peter M. UNSPECIFIED orcid.org/0000-0003-0744-2349 UNSPECIFIED Van Neste, Christophe UNSPECIFIED orcid.org/0000-0002-5958-5731 UNSPECIFIED Willuweit, Sascha UNSPECIFIED orcid.org/0000-0003-1844-8375 UNSPECIFIED Phillips, Christopher UNSPECIFIED orcid.org/0000-0002-9601-0128 UNSPECIFIED
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:	Keywords Language HUMAN MITOCHONDRIAL-DNA; PROFILING GROUP EDNAP; TANDEM REPEAT LOCI; NEXT-GENERATION; ALLELES; GUIDELINES; PCR; IDENTIFICATION; POLYMORPHISM; CONCORDANCE Multiple languages Genetics & Heredity; Medicine, Legal Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/27761