Adobe Flash Player is required to view this feature. If you are using an operating system that does not support Flash, we are working to bring you alternative formats. Original Article Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders Yaping Yang, Ph. Игры Гта 6. D., Donna M.

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Muzny, M.Sc., Jeffrey G. Reid, Ph.D., Matthew N. Bainbridge, Ph.D., Alecia Willis, Ph.D., Patricia A. Ward, M.S., Alicia Braxton, M.S., Joke Beuten, Ph.D., Fan Xia, Ph.D., Zhiyv Niu, Ph.D., Matthew Hardison, Ph.D., Richard Person, Ph.D., Mir Reza Bekheirnia, M.D., Magalie S. Leduc, Ph.D., Amelia Kirby, M.D., Peter Pham, M.Sc., Jennifer Scull, Ph.D., Min Wang, Ph.D., Yan Ding, M.D., Sharon E.

Plon, M.D., Ph.D., James R. Lupski, M.D., Ph.D., Arthur L. Beaudet, M.D., Richard A. Gibbs, Ph.D., and Christine M. N Engl J Med 2013; 369:1502-1511 DOI: 10.1056/NEJMoa1306555. Results We present data on the first 250 probands for whom referring physicians ordered whole-exome sequencing.

Patients presented with a range of phenotypes suggesting potential genetic causes. Approximately 80% were children with neurologic phenotypes.

Insurance coverage was similar to that for established genetic tests. We identified 86 mutated alleles that were highly likely to be causative in 62 of the 250 patients, achieving a 25% molecular diagnostic rate (95% confidence interval, 20 to 31). Among the 62 patients, 33 had autosomal dominant disease, 16 had autosomal recessive disease, and 9 had X-linked disease. Gba4ios Free Download Ipad on this page.

A total of 4 probands received two nonoverlapping molecular diagnoses, which potentially challenged the clinical diagnosis that had been made on the basis of history and physical examination. A total of 83% of the autosomal dominant mutant alleles and 40% of the X-linked mutant alleles occurred de novo. Recurrent clinical phenotypes occurred in patients with mutations that were highly likely to be causative in the same genes and in different genes responsible for genetically heterogeneous disorders. Mendelian diseases are considered to be rare, yet genetic disorders are estimated to occur at a rate of 40 to 82 per 1000 live births. Epidemiologic studies show that if all congenital anomalies are considered as part of the genetic load, then approximately 8% of persons are identified as having a genetic disorder before reaching adulthood. Collectively, rare genetic disorders affect substantial numbers of persons.