Whole exome sequencing identifies cause of metabolic disease

Sequencing a patient’s entire genome to discover the source of his or her disease is not routine, but geneticists are getting close. A case report shows how researchers can combine a simple blood test with an “executive summary” scan of the genome to diagnose a severe glycosylation disorder.

Quoted from Whole exome sequencing identifies cause of metabolic disease on ScienceDaily: Top News

EGL Clients From Around the World. EGL Genetics is pleased to have clients from all over the globe. Interested in sending us testing? Please contact eglmarketing@egl-eurofins.. When clinical findings is not recognized as part of a known syndrome, exome sequencing is the most precise approach to diagnostic testing Description the co-marketing partnership between IDT and Illumina. Tags: exome, sequencing, illumina, libraries, Wele to exome.kr — Site NGS VirtualBox . VirtualBox . Over time, Dr. Baudhuin predicts, NGS will move from targeted panels to to genome . But cost must e down, reagents have to provide better coverage, and variant classification and interpretation tools

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