Inference of haplotypic phase and missing genotypes in polyploid organisms and variable copy number genomic regions

Background: The power of haplotype-based methods for association studies, identification of regions under selection, and ancestral inference, is well-established for diploid organisms. For polyploids, however, the difficulty of determining phase has limited such approaches. Polyploidy is common in plants and is also observed in animals. Partial polyploidy is sometimes observed in humans (e.g. trisomy 21; Down's syndrome), and it arises more frequently in some human tissues. Local changes in ploidy, known as copy number variations (CNV), arise throughout the genome. Here we present a method, implemented in the software polyHap, for the inference of haplotype phase and missing observations from polyploid genotypes. PolyHap allows each individual to have a different ploidy, but ploidy cannot vary over the genomic region analysed. It employs a hidden Markov model (HMM) and a sampling algorithm to infer haplotypes jointly in multiple individuals and to obtain a measure of uncertainty ...

• Type: Journal
• Year: 2008
• Where: BMCBI
• Authors: Shu-Yi Su, Jonathan White, David J. Balding, Lachlan J. M. Coin
• Keywords: BMCBI 2008, Error Rate, Genotype, Haplotype