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Burden Test

Definition
AI-generated

A burden test collapses rare variant genotypes in a region into a single genetic score per individual—often the count or weighted sum of minor alleles meeting annotation or frequency filters—and tests association with the phenotype.

Topics
GWAS
Synonyms
Rare-variant burden test Collapsing burden test
Related
Adaptive Burden Test Gene-Based Test Loss-of-Function Variant

Why it matters in GWAS

Burden tests are simple, interpretable aggregation tools for sequencing studies when true signal is expected to be enriched for risk (or protective) alleles in the same gene or pathway; power drops if effects differ in sign or are carried by only one variant (SKAT can be more robust).

Example usage

"We applied a weighted burden test to loss-of-function variants with MAF < 0.1% within each gene."

Adaptive Burden Test Gene-Based Test Loss-of-Function Variant 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

  • Morgenthaler S, Thilly WG. (2007). A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST). Mutat Res.
  • Li B, Leal SM. (2008). Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet.
  • 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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