Article

A framework for integrated clinical risk assessment using population sequencing data

2021-08-13

Abstract excerpt

<h4>Importance</h4> Clinical risk prediction for monogenic coding variants remains challenging even in established disease genes, as variants are often so rare that epidemiological assessment is not possible. These variants are collectively common in population cohorts -- one in six individuals carries a rare variant in nine clinically actionable genes commonly used in population health screening. <h4>Objective</h...

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Literature Corpus work: 40573090-d745-5e77-aef7-53ccd937fe37
DOI: 10.1101/2021.08.12.21261563

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