Article
Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2017
Shamseldin Hanan E, Maddirevula Sateesh, Faqeih Eissa, Ibrahim Niema, Hashem Mais, Shaheen Ranad, Alkuraya Fowzan S
Abstract excerpt
BACKGROUND: Clinical exome sequencing (CES) has greatly improved the diagnostic process for individuals with suspected genetic disorders. However, the majority remains undiagnosed after CES. Although understanding potential reasons for this limited sensitivity is critical for improving the delivery of clinical genomics, research in this area has been limited. MATERIALS AND METHODS: We first calculated the...
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