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Genome Biol. 2011;12(3):R21. doi: 10.1186/gb-2011-12-3-r21. Epub 2011 Mar 11.

hzAnalyzer: detection, quantification, and visualization of contiguous homozygosity in high-density genotyping datasets.

Author information

  • 1Laboratory for Medical Informatics, Center for Genomic Medicine, RIKEN Yokohama Institute, Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa-ken, 230-0045, Japan.

Abstract

The analysis of contiguous homozygosity (runs of homozygous loci) in human genotyping datasets is critical in the search for causal disease variants in monogenic disorders, studies of population history and the identification of targets of natural selection. Here, we report methods for extracting homozygous segments from high-density genotyping datasets, quantifying their local genomic structure, identifying outstanding regions within the genome and visualizing results for comparative analysis between population samples.

PMID:
21396103
[PubMed - indexed for MEDLINE]
PMCID:
PMC3129671
Free PMC Article

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