The gene dose makes the disease

Corrine Smolen, Santhosh Girirajan

Research output: Contribution to journalComment/debatepeer-review

2 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)2850-2852
Number of pages3
Issue number16
StatePublished - Aug 4 2022

All Science Journal Classification (ASJC) codes

  • General Biochemistry, Genetics and Molecular Biology


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