DNA Commission of the International Society for Forensic Genetics: Revised and extended guidelines for mitochondrial DNA typing

W Parson; L Gusmão; D R Hares; J A Irwin; W R Mayr; N Morling; E Pokorak; M Prinz; A Salas; P M Schneider; T J Parsons

doi:10.1016/j.fsigen.2014.07.010

DNA Commission of the International Society for Forensic Genetics: Revised and extended guidelines for mitochondrial DNA typing

W Parson, L Gusmão, D R Hares, J A Irwin, W R Mayr, N Morling, E Pokorak, M Prinz, A Salas, P M Schneider, T J Parsons

RI ledelse

156 Citations (Scopus)

Abstract

The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the question of human identification. Previous recommendations published in 2000 addressed the analysis and interpretation of mitochondrial DNA (mtDNA) in forensic casework. While the foundations set forth in the earlier recommendations still apply, new approaches to the quality control, alignment and nomenclature of mitochondrial sequences, as well as the establishment of mtDNA reference population databases, have been developed. Here, we describe these developments and discuss their application to both mtDNA casework and mtDNA reference population databasing applications. While the generation of mtDNA for forensic casework has always been guided by specific standards, it is now well-established that data of the same quality are required for the mtDNA reference population data used to assess the statistical weight of the evidence. As a result, we introduce guidelines regarding sequence generation, as well as quality control measures based on the known worldwide mtDNA phylogeny, that can be applied to ensure the highest quality population data possible. For both casework and reference population databasing applications, the alignment and nomenclature of haplotypes is revised here and the phylogenetic alignment proffered as acceptable standard. In addition, the interpretation of heteroplasmy in the forensic context is updated, and the utility of alignment-free database searches for unbiased probability estimates is highlighted. Finally, we discuss statistical issues and define minimal standards for mtDNA database searches.

Original language	English
Journal	Forensic science international. Genetics
Volume	13
Pages (from-to)	134-42
Number of pages	9
ISSN	1872-4973
DOIs	https://doi.org/10.1016/j.fsigen.2014.07.010
Publication status	Published - Nov 2014

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Parson, W., Gusmão, L., Hares, D. R., Irwin, J. A., Mayr, W. R., Morling, N., Pokorak, E., Prinz, M., Salas, A., Schneider, P. M., & Parsons, T. J. (2014). DNA Commission of the International Society for Forensic Genetics: Revised and extended guidelines for mitochondrial DNA typing. Forensic science international. Genetics, 13, 134-42. https://doi.org/10.1016/j.fsigen.2014.07.010

Parson, W, Gusmão, L, Hares, DR, Irwin, JA, Mayr, WR, Morling, N, Pokorak, E, Prinz, M, Salas, A, Schneider, PM & Parsons, TJ 2014, 'DNA Commission of the International Society for Forensic Genetics: Revised and extended guidelines for mitochondrial DNA typing', Forensic science international. Genetics, vol. 13, pp. 134-42. https://doi.org/10.1016/j.fsigen.2014.07.010

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title = "DNA Commission of the International Society for Forensic Genetics: Revised and extended guidelines for mitochondrial DNA typing",

abstract = "The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the question of human identification. Previous recommendations published in 2000 addressed the analysis and interpretation of mitochondrial DNA (mtDNA) in forensic casework. While the foundations set forth in the earlier recommendations still apply, new approaches to the quality control, alignment and nomenclature of mitochondrial sequences, as well as the establishment of mtDNA reference population databases, have been developed. Here, we describe these developments and discuss their application to both mtDNA casework and mtDNA reference population databasing applications. While the generation of mtDNA for forensic casework has always been guided by specific standards, it is now well-established that data of the same quality are required for the mtDNA reference population data used to assess the statistical weight of the evidence. As a result, we introduce guidelines regarding sequence generation, as well as quality control measures based on the known worldwide mtDNA phylogeny, that can be applied to ensure the highest quality population data possible. For both casework and reference population databasing applications, the alignment and nomenclature of haplotypes is revised here and the phylogenetic alignment proffered as acceptable standard. In addition, the interpretation of heteroplasmy in the forensic context is updated, and the utility of alignment-free database searches for unbiased probability estimates is highlighted. Finally, we discuss statistical issues and define minimal standards for mtDNA database searches.",

author = "W Parson and L Gusm{\~a}o and Hares, {D R} and Irwin, {J A} and Mayr, {W R} and N Morling and E Pokorak and M Prinz and A Salas and Schneider, {P M} and Parsons, {T J}",

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AU - Parson, W

AU - Gusmão, L

AU - Hares, D R

AU - Irwin, J A

AU - Mayr, W R

AU - Morling, N

AU - Pokorak, E

AU - Prinz, M

AU - Salas, A

AU - Schneider, P M

AU - Parsons, T J

PY - 2014/11

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N2 - The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the question of human identification. Previous recommendations published in 2000 addressed the analysis and interpretation of mitochondrial DNA (mtDNA) in forensic casework. While the foundations set forth in the earlier recommendations still apply, new approaches to the quality control, alignment and nomenclature of mitochondrial sequences, as well as the establishment of mtDNA reference population databases, have been developed. Here, we describe these developments and discuss their application to both mtDNA casework and mtDNA reference population databasing applications. While the generation of mtDNA for forensic casework has always been guided by specific standards, it is now well-established that data of the same quality are required for the mtDNA reference population data used to assess the statistical weight of the evidence. As a result, we introduce guidelines regarding sequence generation, as well as quality control measures based on the known worldwide mtDNA phylogeny, that can be applied to ensure the highest quality population data possible. For both casework and reference population databasing applications, the alignment and nomenclature of haplotypes is revised here and the phylogenetic alignment proffered as acceptable standard. In addition, the interpretation of heteroplasmy in the forensic context is updated, and the utility of alignment-free database searches for unbiased probability estimates is highlighted. Finally, we discuss statistical issues and define minimal standards for mtDNA database searches.

AB - The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the question of human identification. Previous recommendations published in 2000 addressed the analysis and interpretation of mitochondrial DNA (mtDNA) in forensic casework. While the foundations set forth in the earlier recommendations still apply, new approaches to the quality control, alignment and nomenclature of mitochondrial sequences, as well as the establishment of mtDNA reference population databases, have been developed. Here, we describe these developments and discuss their application to both mtDNA casework and mtDNA reference population databasing applications. While the generation of mtDNA for forensic casework has always been guided by specific standards, it is now well-established that data of the same quality are required for the mtDNA reference population data used to assess the statistical weight of the evidence. As a result, we introduce guidelines regarding sequence generation, as well as quality control measures based on the known worldwide mtDNA phylogeny, that can be applied to ensure the highest quality population data possible. For both casework and reference population databasing applications, the alignment and nomenclature of haplotypes is revised here and the phylogenetic alignment proffered as acceptable standard. In addition, the interpretation of heteroplasmy in the forensic context is updated, and the utility of alignment-free database searches for unbiased probability estimates is highlighted. Finally, we discuss statistical issues and define minimal standards for mtDNA database searches.

U2 - 10.1016/j.fsigen.2014.07.010

DO - 10.1016/j.fsigen.2014.07.010

M3 - Journal article

C2 - 25117402

SN - 1872-4973

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SP - 134

EP - 142

JO - Forensic Science International: Genetics

JF - Forensic Science International: Genetics

ER -

DNA Commission of the International Society for Forensic Genetics: Revised and extended guidelines for mitochondrial DNA typing

Abstract

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