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Functional mask

Definition
AI-generated

A functional mask defines which variants in a gene or region enter a collapsing test—for example loss-of-function only, missense above a score, or splice-disrupting.

Topics
Sequencing Data Analysis
Related
Collapsing analysis Predicted loss-of-function (pLoF)

Why it matters in GWAS

Mask choice strongly affects power and false positives in rare-variant gene tests.

Example usage

"We tested two functional mask settings: strict LoF and missense constrained to MPC > 2."

Collapsing analysis Predicted loss-of-function (pLoF)
Related-term network

Click any node to open that term page.

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

  • Wessel J, et al. (2015). Defining the spectrum and frequency of rare coding variation underlying adult Mendelian disease. Am J Hum Genet.
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