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Draft #5, week 15, whole exome sequencing

Submitted by vvikhrev on Thu, 05/03/2018 - 22:02

This is just a paragraph on why one would use whole exome sequencing instead of whole genome sequencing to find a variant of Leber's congenital amaurosis. Leber's congenital amaurosis is characterized by atrophic macular lesions, pale optic disk, reduction of retinal blood vessels, pigment disruption, and scattered pigment clumping in the peripheral retina. It is an inherited retinal disorder and the most common variants are at the gene NMNAT1. Why would you use whole exome sequencing to find a variant in a family that has been affected by this disease?
exome: part of the genome formed by exons, coding portions of genes,
- because most known mutations that cause disease occur in exons,
- cheaper than whole-genome tests,
- in this example, good for testing already present mutations, proven to be successful
- most alleles known to underlie Mendelian disorders disrupt protein-coding sequences
- a lot of rare, protein-altering variants (missense, non-sense single-base substitutions, INDELs) are predicted to have functional
consequences and/or be deleterious
- the exome presents a highly enriched subset of the genome in which to search for variants w/ large effect sizes