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Beyond the N-of-Two: Strength in Numbers

Posted by Anoop Grewal on Apr 7, 2016 10:00:00 AM

In the previous series of posts, I’ve highlighted the clinical value gained from the first molecular diagnosis of a disease (part 1) and the increasing value as more cases come to light (part 2, part 3). But parents of rare disease sufferers have also found great emotional value in discovering their child, a rare disease sufferer, is not alone.

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Topics: structural variation, genomics, NGLY1, Exomes, phenotypes, PACS1, Sequencing, Rare Disease

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