International Journal of Legal Medicine

, Volume 125, Issue 1, pp 143–147 | Cite as

Software for Y-haplogroup predictions: a word of caution

  • Marina MuzzioEmail author
  • Virginia Ramallo
  • Josefina M. B. Motti
  • Maria R. Santos
  • Jorge S. López Camelo
  • Graciela Bailliet


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.


Molecular anthropology Population genetics Human Y-chromosome SNP/STR Bioinformatic approaches 



The authors thank Dr. J.E. Dipierri and E.L. Alfaro for their valuable contribution, Dr. J.C. Muzzio for his help with the uncertainty coefficient calculations, and Dr. A.N. Califano and C.M. Bravi for their suggestions.

Grant sponsorship: CONICET (Consejo Nacional de Investigaciones Científicas y Técnicas), CICPBA (Comisión de Investigaciones Científicas de la Provincia de Buenos Aires), ANPCyT (Agencia Nacional de Promoción Científica y Tecnológica), and Antorchas Foundation of Argentina.

G. Bailliet and J.S. López Camelo are members of the CONICET (Consejo Nacional de Investigaciones Científicas y Técnicas), Argentina.

Supplementary material

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


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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Marina Muzzio
    • 1
    • 2
    Email author
  • Virginia Ramallo
    • 1
  • Josefina M. B. Motti
    • 1
  • Maria R. Santos
    • 1
  • Jorge S. López Camelo
    • 1
  • Graciela Bailliet
    • 1
  1. 1.Laboratorio de Genética Molecular PoblacionalInstituto Multidisciplinario de Biología Celular (IMBICE), CICPBA, CCTLa Plata–CONICETArgentina
  2. 2.Instituto Multidisciplinario de Biología Celular (IMBICE)La PlataArgentina

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