Items Tagged ‘Oral-facial-digital syndrome’

March 11, 2016

RNA Sequencing Analysis for the Diagnosis of Oral Facial Digital Syndrome

By Jeff Briggs Jeff Briggs (@JeffreyBriggs)

Whole-exome sequencing has become an extremely valuable tool in the diagnoses of rare diseases, of which 80 percent can have an underlying genetic cause. Earlier this week we ran the story of a study from the Center for Individualized Medicine that recommended whole-exome sequencing as a viable option in diagnostic odyssey cases of rare diseases. […]

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Tags: ACMG, American College of Medical Genetics and Genomics, center for individualized medicine, Dr. Nicole Boczek, Oral-facial-digital syndrome, RNA sequencing, WES, whole exome sequencing

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