Article

Transcript expression-aware annotation improves rare variant discovery and interpretation

2019-02-19

Abstract excerpt

The acceleration of DNA sequencing in patients and population samples has resulted in unprecedented catalogues of human genetic variation, but the interpretation of rare genetic variants discovered using such technologies remains extremely challenging. A striking example of this challenge is the existence of disruptive variants in dosage-sensitive disease genes, even in apparently healthy individuals. Through manu...

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Literature Corpus work: 37c66ba2-5d20-5744-9ac1-d6ff6558e45f
DOI: 10.1101/554444

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