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Gene constraint metric

Definition
AI-generated

Gene constraint metrics summarize how depleted a gene is for functional variation relative to expectation—for example observed/expected loss-of-function (LOEUF) or probability of loss-of-function intolerance (pLI).

Topics
Sequencing Data Analysis
Related
Genome Aggregation Database (gnomAD) Predicted loss-of-function (pLoF)

Why it matters in GWAS

Constraint helps prioritize genes in rare-variant burden and interpret coding hits from WGS association screens.

Example usage

"The gene constraint metric LOEUF from gnomAD down-weighted intolerant genes in exploratory scans."

Genome Aggregation Database (gnomAD) 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

  • Karczewski KJ, et al. (2020). The mutational constraint spectrum quantified from variation in 141,456 humans. Nature.
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