Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.
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ABSTRACT:
SUBMITTER: Bestetti I
PROVIDER: S-EPMC8523209 | biostudies-literature | 2021 Oct
REPOSITORIES: biostudies-literature
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Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.
Bestetti I I Barbieri C C Sironi A A Specchia V V Yatsenko S A SA De Donno M D MD Caslini C C Gentilini D D Crippa M M Larizza L L Marozzi A A Rajkovic A A Toniolo D D Bozzetti M P MP Finelli P P
Human reproduction (Oxford, England) 20211001 11
<h4>Study question</h4>Can a targeted whole exome sequencing (WES) on a cohort of women showing a primary ovarian insufficiency (POI) phenotype at a young age, combined with a study of copy number variations, identify variants in candidate genes confirming their deleterious effect on ovarian function?<h4>Summary answer</h4>This integrated approach has proved effective in identifying novel candidate genes unveiling mechanisms involved in POI pathogenesis.<h4>What is known already</h4>POI, a condi ...[more]
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