Sentences with phrase «exome sequence diagnostic»

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Stephen W. Scherer, Ph.D., of the Hospital for Sick Children, Toronto, and colleagues performed chromosomal microarray analysis (CMA) and whole - exome sequencing (WES) in a group of 258 unrelated children with ASD to determine the molecular diagnostic yield (the percentage of subjects with a genetic alteration [mutation] that may contribute to the features of autism spectrum disorder) of these tests.

Exome sequencing, especially via the GeneDx service, has become a routine diagnostic test.

The expanded targeted exome sequencing - based approach described herein (Fetalis), provides strong evidence suggesting a definite and beneficial increase in our diagnostic capabilities in prenatal diagnosis of otherwise chromosomally balanced fetuses with troubling ultrasound abnormalities.

Dr. Shendure's research group in Seattle pioneered exome sequencing and its earliest applications to gene discovery for Mendelian disorders (e.g. Miller and Kabuki syndrome) and autism; cell - free DNA diagnostics for cancer and reproductive medicine; massively parallel reporter assays and saturation genome editing; whole organism lineage tracing; and massively parallel molecular profiling of single cells.

This is a typical diagnostic rate for clinical exome sequencing and is consistent with previous reports based on smaller cohorts.

62/3: 15 Whole exome sequencing with simultaneous analysis of both parents has a high diagnostic yield for patients with epilepsy and neurodevelopmental disorders.