Article

Hypothesis-free phenotype prediction within a genetics-first framework

2023-02-03

Abstract excerpt

<h4>Summary</h4> Cohort-wide sequencing studies have revealed that the largest category of variants is those deemed ‘rare’, even for the subset located in coding regions (99% of known coding variants are seen in less than 1% of the population 1–3 ). Our understanding of how rare genetic variants influence disease and organism-level phenotypes has achieved limited progress, partly explained by the intrinsic diffi...

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Literature Corpus work: 34582d01-15d7-548d-8b34-753fdbd4f9ba
DOI: 10.1101/2023.02.01.526358

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