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Triplosensitivity

Definition
AI-generated

Pathogenic intolerance to three functional copies of a locus or region (dosage opposite of haploinsufficiency framing).

Topics
Core genetics
Related
Haploinsufficiency Copy Number Variant Copy Number Variant

Why it matters in GWAS

Copy-number interpretation in GWAS-related CNV studies uses dosage sensitivity catalogs including triplosensitivity scores.

Example usage

"CNV calls were checked against triplosensitivity annotations for interpretation."

Haploinsufficiency Copy Number Variant Copy Number Variant
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

  • Griffiths AJF, et al. (2015). An Introduction to Genetic Analysis. W. H. Freeman.
← Triploid Trisomy →

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