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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

What is the Whole Genome Sequencing? The human genome is the plete set of DNA present in our cells. It includes our genes (or protein-coding regions There are several inherited eye disorders that affect vision, from ocular developmental disorders, inherited retinal and choroidal dystrophies, to The is the part the genome formed by exons, the sequences which when transcribed remain within the mature RNA after introns are removed by RNA Tags: exome, wikipedia, Sequencing - Wikipedia DNA is the process determining the nucleotide order a given DNA fragment. So far, most DNA has been performed using the chain genome re- is to pare genome sample to available genome reference for detecting variants. Visit for more detailed information on our

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