International Journal of Legal Medicine

, Volume 125, Issue 1, pp 143–147

Software for Y-haplogroup predictions: a word of caution

Authors

    • Laboratorio de Genética Molecular PoblacionalInstituto Multidisciplinario de Biología Celular (IMBICE), CICPBA, CCT
    • Instituto Multidisciplinario de Biología Celular (IMBICE)
  • Virginia Ramallo
    • Laboratorio de Genética Molecular PoblacionalInstituto Multidisciplinario de Biología Celular (IMBICE), CICPBA, CCT
  • Josefina M. B. Motti
    • Laboratorio de Genética Molecular PoblacionalInstituto Multidisciplinario de Biología Celular (IMBICE), CICPBA, CCT
  • Maria R. Santos
    • Laboratorio de Genética Molecular PoblacionalInstituto Multidisciplinario de Biología Celular (IMBICE), CICPBA, CCT
  • Jorge S. López Camelo
    • Laboratorio de Genética Molecular PoblacionalInstituto Multidisciplinario de Biología Celular (IMBICE), CICPBA, CCT
  • Graciela Bailliet
    • Laboratorio de Genética Molecular PoblacionalInstituto Multidisciplinario de Biología Celular (IMBICE), CICPBA, CCT
SHORT COMMUNICATION

DOI: 10.1007/s00414-009-0404-1

Cite this article as:
Muzzio, M., Ramallo, V., Motti, J.M.B. et al. Int J Legal Med (2011) 125: 143. doi:10.1007/s00414-009-0404-1

Abstract

The development of online software designed for genetic studies has been exponentially growing, providing numerous benefits to the scientific community. However, they should be used with care, since some require adjustments. The efficiency of two programs for haplogroup prediction was tested with 119 samples of known haplotypes and haplogroups from Argentine populations. Quantitative estimates of the predictive quality of both software systems were computed with the uncertainty coefficient; and sensitivity, specificity, positive, and negative likelihood ratios were also calculated to assert the reliability of both programs, showing high probabilities of assigning an incorrect haplogroup.

Keywords

Molecular anthropologyPopulation geneticsHuman Y-chromosomeSNP/STRBioinformatic approaches

Supplementary material

414_2009_404_MOESM1_ESM.doc (260 kb)
ESM Table 3Profiles with haplotypes and haplogroups used for validation (DOC 259 kb)

Copyright information

© Springer-Verlag 2010