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Updated: Jun 3, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
hzAnalyzer: detection, quantification, and visualization of contiguous homozygosity in high-density genotyping
Todd A Johnson1, Yoshihito Niimura, Hiroshi Tanaka
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.
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