gnomAD Non-Cancer Controls

Overview

The Genome Aggregation Database (gnomAD) non-cancer subset — a curated reference population of individuals without cancer diagnoses derived from the full gnomAD dataset. Commonly used as a control population for germline burden testing in cancer-predisposition studies. gnomAD v3.1.1 covers >76,000 genomes; the non-cancer subset (n ≈ 74,023) excludes participants with known malignancies.

Used by

• Used as the statistical comparator (n=74,023 healthy adults) for gene-level germline burden testing across 372 pediatric cancer patients; LP/PV frequencies in 25 HBOC genes in cases were compared against allele frequencies in this control set using logistic regression and Fisher’s exact tests PMID:29489754

Notes

• A limitation is that non-cancer status at time of enrollment does not exclude future cancer development or pre-symptomatic carriers of predisposition alleles.
• Ascertainment bias: adult controls have survived the pediatric-cancer-risk window, potentially deflating LP/PV frequencies for genes associated specifically with childhood malignancies.
• Version used: gnomAD v3.1.1.

Sources

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