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Article

How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism.

Human genetics - 1 Nov 2023

Xu Wanxue, Plummer Lacey, Seminara Stephanie B, Balasubramanian Ravikumar, Lippincott Margaret F

Abstract excerpt

Precision medicine requires precise genetic variant interpretation, yet many disease-associated genes have unresolved variants of unknown significance (VUS). We analyzed variants in a well-studied gene, FGFR1, a common cause of Idiopathic Hypogonadotropic Hypogonadism (IHH) and examined whether regional genetic enrichment of missense variants could improve variant classification. FGFR1 rare sequence variants...

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Identifiers

PMID: 37805574
DOI: 10.1007/s00439-023-02601-w
PMCID: PMC10977353

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