publication . Article . Other literature type . 2010

MaCH: Using Sequence and Genotype Data to Estimate Haplotypes and Unobserved Genotypes

Li, Yun; Willer, Cristen J.; Ding, Jun; Scheet, Paul; Abecasis, Gonçalo R.;
  • Published: 01 Dec 2010
Genome-wide association studies (GWAS) can identify common alleles that contribute to complex disease susceptibility. Despite the large number of SNPs assessed in each study, the effects of most common SNPs must be evaluated indirectly using either genotyped markers or haplotypes thereof as proxies. We have previously implemented a computationally efficient Markov Chain framework for genotype imputation and haplotyping in the freely available MaCH software package. The approach describes sampled chromosomes as mosaics of each other and uses available genotype and shotgun sequence data to estimate unobserved genotypes and haplotypes, together with useful measures...
free text keywords: Genotyping, International HapMap Project, Haplotype, Imputation (genetics), Imputation (statistics), Shotgun sequencing, Genome-wide association study, Genetics, Biology, Genetic association, Article
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Europe PubMed Central
Other literature type . 2010
Other literature type . 2010
Provider: Datacite
UNC Dataverse
Other literature type . 2010
Provider: Datacite
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