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Adaptive Burden Test

Definition
AI-generated

Adaptive burden tests choose which rare variants to include or how to weight them using the data—rather than fixing a single minor allele frequency or functional mask a priori—then test association on the resulting collapsed score.

Topics
GWAS
Related
Burden Test Gene-Based Test Minor Allele Count (MAC)

Why it matters in GWAS

Optimal filtering of ultra-rare variation is uncertain; adaptive approaches can improve power when the true causal spectrum is unknown, at the cost of more complex inference and careful control of multiple testing across thresholds or weights.

Example usage

"We applied an adaptive burden test that tuned variant masks by functional annotation and allele frequency before evaluating gene-level association."

Burden Test Gene-Based Test Minor Allele Count (MAC) Minor Allele Frequency (MAF) Rare Variant Rare Variant Aggregation Test SKAT SKAT-O
Related-term network

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Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Boutry S, Helaers R, et al. (2023). Rare variant association on unrelated individuals in case-control studies using aggregation tests: existing methods and current limitations. Brief Bioinform. https://doi.org/10.1093/bib/bbad412
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