Article
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel.
Nature communications - 13 Jun 2014
Delaneau Olivier, Marchini Jonathan
Abstract excerpt
A major use of the 1000 Genomes Project (1000 GP) data is genotype imputation in genome-wide association studies (GWAS). Here we develop a method to estimate haplotypes from low-coverage sequencing data that can take advantage of single-nucleotide polymorphism (SNP) microarray genotypes on the same samples. First the SNP array data are phased to build a backbone (or 'scaffold') of haplotypes across each...
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