Article
Transcript expression-aware annotation improves rare variant interpretation.
Nature - 1 May 2020
Cummings Beryl B, Karczewski Konrad J, Kosmicki Jack A, Seaby Eleanor G, Watts Nicholas A, Singer-Berk Moriel, Mudge Jonathan M, Karjalainen Juha, Satterstrom F Kyle, O'Donnell-Luria Anne H, Poterba Timothy, Seed Cotton, Solomonson Matthew, Alföldi Jessica, Daly Mark J, MacArthur Daniel G
Abstract excerpt
The acceleration of DNA sequencing in samples from patients and population studies has resulted in extensive catalogues of human genetic variation, but the interpretation of rare genetic variants remains problematic. A notable example of this challenge is the existence of disruptive variants in dosage-sensitive disease genes, even in apparently healthy individuals. Here, by manual curation of putative...
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