Article

Methods for determining the genetic causes of rare diseases

2018-01-01

Abstract excerpt

Thanks to the affordability of DNA sequencing, hundreds of thousands of individuals with rare disorders are undergoing whole-genome sequencing in an effort to reveal novel disease aetiologies, increase our understanding of biological processes and improve patient care. However, the power to discover the genetic causes of many unexplained rare diseases is hindered by a paucity of cases with a shared molecular aetio...

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Literature Corpus work: 69a1db0d-540d-5986-8db8-2318754e398f
DOI: 10.17863/cam.17443

Open publication

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