RT Journal Article
T1 Evaluating the accuracy of AIM panels at quantifying genome ancestry
A1 Pardo Seco, Jacobo José
A1 Martinón Torres, Federico
A1 Salas Ellacuriaga, Antonio
K1 Genomics
K1 SNPs
K1 AIMs
K1 Ancestry
AB BackgroundThere is a growing interest among geneticists in developing panels of Ancestry Informative Markers (AIMs) aimed at measuring the biogeographical ancestry of individual genomes. The efficiency of these panels is commonly tested empirically by contrasting self-reported ancestry with the ancestry estimated from these panels.ResultsUsing SNP data from HapMap we carried out a simulation-based study aimed at measuring the effect of SNP coverage on the estimation of genome ancestry. For three of the main continental groups (Africans, East Asians, Europeans) ancestry was first estimated using the whole HapMap SNP database as a proxy for global genome ancestry; these estimates were subsequently compared to those obtained from pre-designed AIM panels. Panels that consider >400 AIMs capture genome ancestry reasonably well, while those containing a few dozen AIMs show a large variability in ancestry estimates. Curiously, 500-1,000 SNPs selected at random from the genome provide an unbiased estimate of genome ancestry and perform as well as any AIM panel of similar size. In simulated scenarios of population admixture, panels containing few AIMs also show important deficiencies to measure genome ancestry.ConclusionsThe results indicate that the ability to estimate genome ancestry is strongly dependent on the number of AIMs used, and not primarily on their individual informativeness. Caution should be taken when making individual (medical, forensic, or anthropological) inferences based on AIMs.
PB BMC
SN 1471-2164
YR 2014
FD 2014
LK http://hdl.handle.net/10347/23019
UL http://hdl.handle.net/10347/23019
LA eng
NO Pardo-Seco, J., Martinón-Torres, F. & Salas, A. Evaluating the accuracy of AIM panels at quantifying genome ancestry. BMC Genomics 15, 543 (2014). https://doi.org/10.1186/1471-2164-15-543
NO The research leading to these results has received funding from the“Ministerio de Ciencia e Innovación” (SAF2008-02971) and from the PlanGalego IDT, Xunta de Galicia (EM 2012/045) (A.S.) and Consellería deSanidade/Xunta de Galicia (RHI07/2-intensificación actividad investigadoraand 10PXIB918184PR), Instituto Carlos III (Intensificación de la actividadinvestigadora) and Fondo de Investigación Sanitaria (FIS; PI070069 andPI1000540) del Plan Nacional de I + D + I and ‘fondos FEDER’ (F.M.T.), and thegrant from the Sistema Universitario Gallego- Modalidad REDES (2012-PG226)of the Consellería de Cultura, Educación e Ordenación Universitaria of theXunta de Galicia (A.S., F.M.T.)
DS Minerva
RD 24 abr 2026