High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.

Raiane P CrespoThais P RochaLuciana R MontenegroMirian Yumie Nishi Alexander Augusto de Lima Jorge Gustavo Arantes Rosa Maciel Edmund Chada Baracat Ana Claudia L Xavier Berenice Bilharinho de Mendonca Larissa G Gomes

Published in: Journal of the Endocrine Society (2022)

Several rare variants in genes related to IR were identified in women with PCOS. Although IR is a common feature of PCOS, patients with extreme or atypical phenotype should be carefully evaluated to rule out monogenic conditions.

Keyphrases

polycystic ovary syndrome
high throughput sequencing
insulin resistance
copy number
machine learning
genome wide
climate change
deep learning
genome wide identification
bioinformatics analysis
type diabetes
skeletal muscle
gene expression
drug induced