Article

ExomeSlicer: a resource for the development and validation of exome-based clinical panels

2018-01-16

Abstract excerpt

Exome-based panels (exome slices) are becoming the preferred diagnostic strategy in clinical laboratories, especially for genetically heterogeneous disorders. The advantages of this approach include enabling frequent updates to gene content without the need for re-designing, reflexing to exome analysis bioinformatically without requiring additional sequencing, and streamlining laboratory operation by using establi...

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Literature Corpus work: 7206b323-4645-5fb0-a173-c5ec909b5b1f
DOI: 10.1101/248906

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