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


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.

SUBMITTER: Johnson TA 

PROVIDER: S-EPMC3129671 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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

Johnson Todd A TA   Niimura Yoshihito Y   Tanaka Hiroshi H   Nakamura Yusuke Y   Tsunoda Tatsuhiko T  

Genome biology 20110311 3


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 b  ...[more]

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