YFitter: Maximum likelihood assignment of Y chromosome haplogroups from low-coverage sequence data
نویسندگان
چکیده
Low-coverage short-read resequencing experiments have the potential to expand our understanding of Y chromosome haplogroups. However, the uncertainty associated with these experiments mean that haplogroups must be assigned probabilistically to avoid false inferences. We propose an efficient dynamic programming algorithm that can assign haplogroups by maximum likelihood, and represent the uncertainty in assignment. We apply this to both genotype and low-coverage sequencing data, and show that it can assign haplogroups accurately and with high resolution. The method is implemented as the program YFitter, which can be downloaded from http://sourceforge.net/projects/yfitter/
منابع مشابه
DHPLC Applications: Finding DNA Variation on the Y Chromosome
Denaturing High-Performance Liquid Chromatography (DHPLC) is a recently developed technique forthe detection of single nucleotide polymorphisms (SNPs) and mutations. It involves the comparisonbetween two or more DNAs as a mixture of denatured and reannealed PCR products. The methodologyis based on the principle of reversed phase liquid chromatography and uses a unique DNA sepa...
متن کاملYHap: software for probabilistic assignment of Y haplogroups from population re-sequencing data
Y haplogroup analyses are an important component of genealogical reconstruction, population genetic analyses, medical genetics and forensics. These fields are increasingly moving towards use of low-coverage, high throughput sequencing. However, there is as yet no software available for using sequence data to assign Y haplogroup groups probabilistically, such that the posterior probability of as...
متن کاملY-Chromosome Haplogroups in the Bosnian-Herzegovinian Population Based on 23 Y-STR Loci.
In a study of the Bosnian-Herzegovinian (B&H) population, Y-chromosome marker frequencies for 100 individuals, generated using the PowerPlex Y23 kit, were used to perform Y-chromosome haplogroup assignment via Whit Athey's Haplogroup Predictor. This algorithm determines Y-chromosome haplogroups from Y-chromosome short tandem repeat (Y-STR) data using a Bayesian probability-based approach. The m...
متن کاملMaximum likelihood estimation of locus-specific mutation rates in Y-chromosome short tandem repeats
MOTIVATION Y-chromosome short tandem repeats (Y-STRs) are widely used for population studies, forensic purposes and, potentially, the study of disease, therefore knowledge of their mutation rate is valuable. Here we show a novel method for estimation of site-specific Y-STR mutation rates from partial phylogenetic information, via the maximum likelihood framework. RESULTS Given Y-STR data clas...
متن کاملConcept for estimating mitochondrial DNA haplogroups using a maximum likelihood approach (EMMA)☆
The assignment of haplogroups to mitochondrial DNA haplotypes contributes substantial value for quality control, not only in forensic genetics but also in population and medical genetics. The availability of Phylotree, a widely accepted phylogenetic tree of human mitochondrial DNA lineages, led to the development of several (semi-)automated software solutions for haplogrouping. However, current...
متن کامل