Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients

Article Abstract:

The homozygosity haplotype (HH) a haplotype described by the homozygous SNPs are introduced to search patients' autosomes for shared chromosomal segments derived from a common ancestor. A family affected with Marfan disease and patients with model multigene diseases were studied and it was found that the HH successfully detected the shared segments from members of this large family and also form patients with model multigene disease.

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Haplotype homozygosity and derived alleles in the human genome

Article Abstract:

A simple pairwise metric of haplotype homozygosity is shown to give significantly higher mean values for human single-nucleotide-polymorphism alleles that appear to be derived than for those that appear to be ancestral, as determined by comparison with the chimpanzee genome. Results support the use of haplotype-based techniques, such as extended haplotypic homozygosity, to assess the age of alleles.

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Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering

Article Abstract:

A new method and software system is presented for inference of haplotype phase and missing data which could accurately phase data from whole-genome association studies.

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