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Article

The gene dose makes the disease.

Cell - 4 Aug 2022

Smolen Corrine, Girirajan Santhosh

Abstract excerpt

A long-standing challenge in genomics has been to identify causal genes within rare copy-number variant regions that are intolerant to altered dosage. In this issue, Collins et al. perform a meta-analysis of almost a million individuals to identify dosage-sensitive segments and genes conferring risk for a range of disease phenotypes.

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Identifiers

PMID: 35931018
DOI: 10.1016/j.cell.2022.07.005
PMCID: PMC10000018

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