MCD BIO CM156 Chapter Notes - Chapter Paper 1: Slc26A3, Reference Genome, Missense Mutation
16 Jan 2020
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Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete coding regions (i. e. , whole exome"") have the potential to contribute to the understanding of rare and common human diseases. Here we report a method for whole-exome sequencing coupling roche/nimblegen whole exome arrays to the illumina dna sequencing platform. We demonstrate the ability to capture approximately 95% of the targeted coding sequences with high sensitivity and specificity for detection of homozygous and heterozygous variants. We illustrate the utility of this approach by making an unanticipated genetic diagnosis of congenital chloride diarrhea in a patient referred with a suspected diagnosis of bartter syndrome, a renal salt-wasting disease. To our knowledge, whole-exome (or genome) sequencing has not previously been used to make a genetic diagnosis.
