1,721,002 research outputs found
Kinship by isonimy and by gene frequencies: a comparison of population structures at different hierarchical population levels
Y-STR haplotyping in French immigrants of Maghreb origin: drop of diversity and implications on the matching probability and the assignment of ethnic affiliation
Tools which simulate the evolution of the uni-parental elements of the human genome
Several simulators have been recently developed in the field of evolutionary genetics which make it possible to test empirical data under hypotheses of genetic variation generated by evolutionary causes. In the perspectives opened in the post-genomic era, they need to meet the growing demand for flexible and computationally efficient algorithms capable of managing genome-wide population datasets. Backward and forward-in-time strategies are available when attempting to better understand the complexity of the evolutionary scenarios actually followed by real populations. However, both strategies have a number of pros and cons. Although non recombinant uni-parentally inherited (NRUP) haplotypes, as the variants of the mitochondrial genome and the majority of Y chromosome polymorphisms, have been an invaluable source of genetic information during the last two decades of molecular anthropological research, few dedicated programs have been designed to model their evolution. The present paper is a brief comparative and annotated overview of the simulation tools developed in the field of population genetics which can be applied to large NRUP data in order to test complex hypotheses concerning genetic variation from a human evolutionary perspective
Profilo genetico della popolazione corsa e toscana attraverso l’analisi di sistemi autosomici STR
The genetic history of the population from Corsica (Western Mediterranean) as inferred from autosomal STR analysis
Tools to predicting binary states on the human Y chromosome from STR data
A novel Bayesian algorithm, “WYZARD”, is designed to predicting binary states on the human Y chromosome from STR data. It allows users to retrieve linkage probabilities between combination of alleles at the 8 most widely used STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS388) and the derived mutations defining 1 super-haplogroup [F(xK)], 4 haplogroups (I, L, N, Q) and 14 sub-haplogroups (E3a, E3b1a, E3b1b, E3b3, G1, G2, I1a, I1b, I1c, J1, J2, R1a, R1b, R2), which encompass 99% of West Eurasian variability. Prior probabilities were calculated from a geographically unbiased repository of 3,672 chromosomes we collected from published and unpublished sources. The robustness of the WYZARD approach and of other six approaches of haplogroup assignment following distance-, Bayesian- and frequencybased methods was assess by comparing predictions against the true haplogroup of 135 haplotypes with Austrian origin. Incorrect assignments ranged between 11.1% and 16.3%, with WYZARD giving the lower values among Bayesian methods (14.8 %). Being misleading results limited to few couples of haplogroups, a 100% rate of correct assignments can be reached introducing STR-based predictions in routine protocols for Y binary screening. It would shortcut the diagnosis of binary mutations with costs 50-70% lower than standing-alone approaches
The role of geography and language in the shaping of Y genetic variability in the Caucasus
La consanguineità nella popolazione della val di Lima (Lucca) per il periodo cronologico 1725-1999: confronto tra i coefficienti ottenuti su base isonimica e su base genealogica
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