not invented here.

Notes on bioinformatics methods, software and discussions.

9.21.2011 Short talk from the exome sequencing session

Gholson Lyon

Opens with Brenner’s quote that we are the model organism now. Can we find unreported idiopathic disorders and identify their genetic basis? Shows large Utah pedigree with disease information; 10-30 genetic cases presented at a weekly case conference, many of which not described in the literature. Sample case of ‘old’ babies who tended to buy at around 1 year of age from cardia arrhythmia; not described in the literature despite distinct features (rigid, loose skin, superficially similar to progeria).

Autopsies unremarkable other than cardiac failure. Did X-linked capture for sequencing, ANNOVAR and VAAST analysis, identified one mutation that perfectly separated affected / unaffected family members affecting the amino-terminal acetylation of proteins. Now identified additional family with exact same mutation, completely unrelated with no common founder.

beyond the genome ✳ genetics ✳ Conference