Next generation database search algorithm for forensic mitogenome analyses

Forensic Science International. Genetics
Nicole HuberArne Dür

Abstract

Mitochondrial DNA (mtDNA) variation is being reported relative to the corrected version of the first sequenced human mitochondrial genome. A review of the existing literature across disciplines that employ mtDNA demonstrates that insertions and deletions are not reported in a standardized way. This may lead to false exclusions of identical sequences, unidentified matches in missing persons mtDNA databases, biased mtDNA database frequency estimates and overestimation of the genetic evidence. Seven years ago we introduced alignment-free database search software (SAM) and implemented it into the mtDNA database EMPOP (https://empop.online) to produce reliable and conservative frequency estimates that are required in the forensic context. However, ambiguity remained in how laboratories have been reporting mitotypes, as often more than one single alignment of a given mtDNA sequence was feasible. In order to overcome this limitation we here describe a concept and provide software for producing stable, harmonized phylogenetic alignment of mtDNA sequences for database searches. The new software SAM 2 will be made available via EMPOP and provide the user with the already established conservative frequency estimates. In addition, SAM 2 of...Continue Reading

Citations

May 3, 2020·International Journal of Legal Medicine·Dirk Christopher SauerSabine Lutz-Bonengel
Jan 16, 2019·Nature·Thomas G McWilliams, Anu Suomalainen
Jun 7, 2020·International Journal of Legal Medicine·Slobodan DavidovicNatasa Kovacevic-Grujicic
Jan 16, 2021·Nucleic Acids Research·Sabine Lutz-BonengelWalther Parson
Jan 2, 2021·Forensic Science International : Synergy·John M Butler, Sheila Willis
Nov 23, 2019·Forensic Science International. Genetics·Lucija BarbarićWalther Parson
Nov 4, 2020·Genes·Cassandra R TaylorCharla Marshall
Jan 31, 2021·Genes·Benjamin CrysupBruce Budowle
Feb 18, 2020·Forensic Science International. Genetics·Óscar GarcíaWalther Parson
Oct 20, 2019·Forensic Science International. Genetics·Michael D BrandhagenJodi A Irwin
Nov 30, 2019·Forensic Science International. Genetics·Kimberly Sturk-AndreaggiCharla Marshall
Jul 10, 2019·Forensic Science International. Genetics·Bettina ZimmermannWalther Parson
Mar 26, 2021·American Journal of Human Biology : the Official Journal of the Human Biology Council·Sandra Flores-AlvaradoMauricio Moraga
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Jun 3, 2021·International Journal of Molecular Sciences·Arne DürWalther Parson
Aug 11, 2021·Emerging Topics in Life Sciences·Denise Syndercombe Court

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