Article

AgileROH: Rapid identification of autozygous regions using Illumina short read sequencing data

2022-08-01

Abstract excerpt

Rare autosomal recessive diseases are a major cause of mortality and morbidity. They occur more frequently in individuals with consanguineous parents, in which case the pathogenic variants are often located within regions of genetic identity by descent. A well-established and effective way of identifying these “autozygous” genomic regions has been to search for runs of homozygous genotypes in microarray SNP data....

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Literature Corpus work: 72ef6c16-e8b1-5fb7-88b0-6742889b24f1
DOI: 10.22541/au.165933904.43435894/v1

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