The gene dose makes the disease.
meta_analysis · Level I
Where this comes from
- Record sourced from PubMed, PMID 35931018.
- Also identified by DOI 10.1016/j.cell.2022.07.005 and PMC identifier 10000018.
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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.
Medical subject headings
- DNA Copy Number Variations
- Genomics