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Somatic variant

Definition
AI-generated

Mutation arising after birth in a cell lineage; contrasts with germline variants in GWAS arrays.

Topics
Core genetics
Related
Mosaicism Single Nucleotide Variant (SNV) Copy Number Variant (CNV)

Why it matters in GWAS

GWAS arrays and most GWAS cohorts capture germline DNA; somatic mosaicism requires different designs and confounds if unchecked in tissues.

Example usage

"Quality-controlled Somatic variant data were used to prioritize robust loci and downstream functional follow-up."

Mosaicism Single Nucleotide Variant (SNV) Copy Number Variant (CNV)
Related-term network

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References

  • Griffiths AJF, et al. (2015). An Introduction to Genetic Analysis. W. H. Freeman.
← Somatic hypermutation South Asian ancestry →

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