tailieunhanh - Báo cáo y học: " hzAnalyzer: detection, quantification, and visualization of contiguous homozygosity in high-density genotyping datasets"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: hzAnalyzer: detection, quantification, and visualization of contiguous homozygosity in high-density genotyping datasets. | Johnson et al. Genome Biology 2011 12 R21 http 2011 12 3 R21 w Genome Biology METHOD Open Access hzAnalyzer detection quantification and visualization of contiguous homozygosity in high-density genotyping datasets I A I I r 1 2 r I I I I All I I 2 I_I I rr. f- I I I I 2 1 If . I I I I 4 I f- I I I I I í I I1 load A Johnson Yoshihito Niimura Hiroshi lanaka Yusuke Nakamura latsuhiko isunoda 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. Background Homozygosity represents a simple but important concept for exploring human population history the structure of human genetic variation and their intersection with human disease. At its most basic level homozygosity means that for a particular locus the two copies that are inherited from an individual s parents both have the same allelic value and are identical-by-state. However if the two homologues originate from the same ancestor in their genealogic histories then the two copies can be described as being identical-by-descent and the locus referred to as autozygous 1 . While autozygosity stems from recent relatedness between an individual s p arents shared ancestry from the much more distant past can nevertheless result in portions of any two homologous chromosomes being homozygous by descent reflecting background relatedness within a population 2 . Researchers need to integrate information across multiple contiguous homozygous SNPs in an individual s genome to detect such homozygous segments which by their very nature .

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