Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

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Science Translational Medicine  03 Sep 2014:
Vol. 6, Issue 252, pp. 252ra123
DOI: 10.1126/scitranslmed.3009262

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Efficient Diagnosis of Genetic Disease

We know which genes are mutated in almost 3000 inherited human diseases and have good descriptions of how these mutations affect the human phenotype. Now, Zemojtel et al. have coupled this knowledge with rapid sequencing of these genes in a group of 40 patients with undiagnosed genetic diseases. Bioinformatic matching of the patients’ clinical characteristics and their disease gene sequences to databases of current genetic and phenotype knowledge enabled the authors to successfully diagnose almost 30% of the patients. The process required only about 2 hours of a geneticists’ time. Zemojtel et al. have made their tools available to the community, enabling a fast straightforward process by which clinicians and patients can easily identify the genetic basis of inherited disease in certain people.