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Detection of Runs of Homozygosity from Whole Exome Sequencing Data: State of the Art and Perspectives for Clinical, Population and Epidemiological Studies
Exome sequencing Runs of homozygosity Homozygosity mapping
2015/5/5
Runs of homozygosity (ROH) are sizeable stretches of homozygous genotypes at consecutive polymorphic DNA marker positions, traditionally captured by means of genome-wide single nucleotide polymorphism...
H3M2:detection of runs of homozygosity from whole-exome sequencing data
H3M2 runs of homozygosity whole-exome sequencing data
2015/5/5
Motivation: Runs of homozygosity (ROH) are sizable chromosomal stretches of homozygous genotypes, ranging in length from tens of kilobases to megabases. ROHs can be relevant for population and medical...
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population
Wilson disease genetic epidemiology consanguinity homozygosity index
2015/4/24
Wilson disease (WD) is an autosomal recessive disorder resulting in pathological progressive copper accumulation in liver and other tissues. The worldwide prevalence (P) is about 30/million, while in ...
Homozygosity for Pericentric Inversions of Chromosome 9 in a Patient’s Parents with Stillbirth- Report of a New Case and Review of Literature
Pericentric inversions Chromosome 9 Iran
2010/2/4
Pericentric inversions of chromosome 9 are among the most frequent chromosomal rearrangement in human. A few cytogeneticists consider inversions of chromosome 9 as a normal variant. However, many repo...