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Addressing the Use of Phylogenetics for Identification of Sequences in Error in the SWGDAM Mitochondrial DNA Database

NCJ Number
207710
Journal
Journal of Forensic Sciences Volume: 49 Issue: 6 Dated: November 2004 Pages: 1256-1261
Author(s)
Bruce Budowle Ph.D.; Deborah Polanskey B.S.; Marc W. Allard Ph.D.; Ranajit Chakraborty Ph.D.
Date Published
November 2004
Length
6 pages
Annotation
After discussing the possibility of errors in the SWGDAM mtDNA (mitochondrial DNA) database, a publicly available reference source that is used to estimate the rarity of an evidence mtDNA profile, this paper discusses the use of phylogenetic network analyses to assist in detecting such errors.
Abstract
In a forensic analysis, the mtDNA types between a known exemplar and an evidence sample are compared. When the known and evidence samples match, information is obtained about the rarity of the identified mtDNA profile by counting the number of times the observed DNA sequence is observed in a database. The quality of the reference database must thus be addressed in assessing the weight of the DNA evidence. Because of the current processes for generating population DNA data, it is unlikely that population databases are error free. The majority of the errors are due to mistakes in transcription, and these types of errors can be reduced by implementing phylogenetic network analyses. Such analyses assist in identifying incongruent haplogroup data and thus possible transcription errors. Wrongly merged sequences can also be identified. The authors endorse phylogenetic network analyses as effective means for reducing errors in the SWGDAM reference database, and they are continuing such analyses as part of the quality control for any new data added to the SWGDAM database; however, they caution that phylogenetic analysis should not be viewed as an absolute rule for asserting error. Any assertion of error by phylogenetic analysis must be confirmed by determining whether some character changes may be true reversals. 1 figure, 3 tables, and 21 references