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ea0104op13 | Oral Posters 4 - Endocrinology 2 | SFEIES24

A tiered, evidence-based approach to exome sequencing analysis in early-onset primary ovarian insufficiency

McGlacken-Byrne Sinead , P Suntharalingham Jenifer , Ishida Miho , Buonocore Federica , Del Valle Ignacio , Cameron-Pimblett Antoinette , Genomics UCL , Dattani Mehul T. , Achermann John , Conway Gerard S.

Background: Sequencing of Primary Ovarian Insufficiency cohorts have identified variants in >100 POI genes in up to 50% of women but establishing pathogenicity is challenging. Early-onset POI (EO-POI; adolescents) may have a distinct genetic profile.Methods: We performed exome sequencing (Nonacus) in an EO-POI cohort. Filtering (QCI) retained variants which were 1) rare/novel (MAF<0.01%), 2) predicted pathogenic in silico, 3)...

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A tiered, evidence-based approach to exome sequencing analysis in early-onset primary ovarian insufficiency

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