Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort

Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort

Endometriosis (EM) is a common multifactorial gynaecological disorder. Although Genome-Wide Association Studies have largely been employed, the current knowledge of the genetic mechanisms underlying EM is far from complete, and other approaches are needed. To this purpose, whole-exome sequencing (WE...

Full description

Bibliographic Details
Main Authors: Aurora Santin, Beatrice Spedicati, Anna Morgan, Stefania Lenarduzzi, Paola Tesolin, Giuseppe Giovanni Nardone, Daniela Mazzà, Giovanni Di Lorenzo, Federico Romano, Francesca Buonomo, Alessandro Mangogna, Maria Pina Concas, Gabriella Zito, Giuseppe Ricci, Giorgia Girotto
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Biomedicines
Subjects:
endometriosis
whole-exome sequencing
rare variants
candidate genes
deep clinical evaluation
genotype–phenotype correlations
Online Access:https://www.mdpi.com/2227-9059/11/8/2122

Internet

https://www.mdpi.com/2227-9059/11/8/2122

Similar Items