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Cumulative minor allele count (cMAC)

Definition
AI-generated

Cumulative minor allele count (cMAC) is the total count of minor alleles observed across variants in a unit (for example a gene mask) in a cohort—used to filter or weight rare-variant tests.

Topics
Sequencing Data Analysis
Related
Allele count (AC) Burden Test Minor Allele Count (MAC)

Why it matters in GWAS

cMAC thresholds stabilize variance-component tests and avoid unstable estimation when counts are extremely low.

Example usage

"Genes with cMAC < 5 were excluded from variance-component rare-variant tests."

Allele count (AC) Burden Test Minor Allele Count (MAC)
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References

  • Lee S, et al. (2014). Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. Am J Hum Genet.
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