Systematic mapping and in silico reevaluation of genomic copy number variations in primary ovarian insufficiency
Authors' conclusion
This comprehensive re-analysis highlights the complex structural genomic landscape of POI
Study context
- Population
- Individuals with primary ovarian insufficiency (POI) with published copy number variations (CNVs)382 CNVs · 25 studies
- Outcome
- Reevaluated pathogenicity of published CNVs in POI
Methodological detailsPRISMA guidelines, ACMG/ClinGen pathogenicity reevaluation, gene ontology and GTEx expression profiling
- PRISMA guidelines
- ACMG/ClinGen pathogenicity reevaluation
- Gene ontology and GTEx expression profiling
Pooled result
As reported in the abstract
CNVs aggregated
382
Pathogenic/likely pathogenic variants
42
Large CNVs (>3.5 Mb)
25
Original publication
Systematic mapping and in silico reevaluation of genomic copy number variations in primary ovarian insufficiency. J Clin Endocrinol Metab. Published 13 May 2026. doi:10.
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