The impact of jumping alignments on mtDNA population analysis and database searching

Bobi K. Den Hartog, John W. Elling, Bruce Budowle

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

Describing human mitochondrial DNA sequences by listing only those sites that differ from an aligned reference sequence is the standard practice for nomenclature. However this different-from-reference description can produce artificial alignments when comparing two non-reference sequences which in some situations may exaggerate the difference between the non-reference sequences-a problem called "jumping alignments." The impact of jumping alignments in database searching and population studies is evaluated. Alternative phylogenetic approaches for sequence alignment are also compared. The data show that a small percentage of jumping alignments occur with a standardized nomenclature system and with a phylogenetic approach, with a nominal impact on false exclusion database searching errors.

Original languageEnglish
Pages (from-to)315-316
Number of pages2
JournalForensic Science International: Genetics Supplement Series
Volume2
Issue number1
DOIs
StatePublished - 1 Jan 2009

Keywords

  • Alignment
  • EMPOP
  • Forensic science
  • Haplogroup
  • Hierarchical bifurcating approach
  • Mitochondrial DNA
  • Mitotyper
  • Mitotyper rules
  • Nomenclature
  • Phylogenetics
  • SWGDAM
  • mtDNA sequence database

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