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Genetic Linkage

Tale of Two Families: Exome Sequencing and Faster Diagnosis of Rare Disorders

Exome sequencing significantly sped diagnosis of Nicholas' rare genetic syndrome.
Sailing from New York City to London a century ago took days; today the trip takes hours by air. Similarly, the “diagnostic odyssey” to identify rare diseases has collapsed from years to months, sometimes even less, through the use of exome sequencing and analysis.

A tale of a teen and a tyke with the extremely rare Wiedemann-Steiner syndrome (WSS) argues for the value of earlier exome sequencing in the search for a diagnosis. Read More 
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