The gene dose makes the disease

Corrine Smolen; Santhosh Girirajan

doi:10.1016/j.cell.2022.07.005

The gene dose makes the disease

Cell. 2022 Aug 4;185(16):2850-2852. doi: 10.1016/j.cell.2022.07.005.

Authors

Corrine Smolen¹, Santhosh Girirajan²

Affiliations

¹ Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate Program, The Huck Institutes of the Life Sciences, University Park, PA 16802, USA.
² Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate Program, The Huck Institutes of the Life Sciences, University Park, PA 16802, USA. Electronic address: sxg47@psu.edu.

Abstract

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.

The gene dose makes the disease

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Abstract

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