Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder.

Abstract excerpt

The use of genome wide genotyping arrays has the potential to assess entire groups of genetic disorders in one application and has begun to emerge as an aid to diagnosis in clinical practice. Recessive families may suffer from diseases because of homozygosity of recessive alleles; homozygosity tracks can be easily identified by using these high throughput SNPs arrays, allowing the rapid mapping of autozygous...

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