A standardized approach for case selection and genomic data analysis of maternal exomes for the diagnosis of oocyte maturation and early embryonic developmental arrest in IVF
Antonio Capalbo, Silvia Buonaiuto, Matteo Figliuzzi, Gianluca Damaggio, Laura de Carvalho Girardi, Silvia Caroselli, Maurizio Poli, Cristina Patassini, Murat Çetinkaya, Beril Yüksel, Ajuna Azad, Marie Louise Grøndahl, Eva R. Hoffmann, Carlos Simón, Vincenza Colonna, Semra Kahraman
The paper develops a methodology for selecting IVF cases with oocyte maturation defects and preimplantation embryo lethality, using whole-exome sequencing and bioinformatics to identify causative genetic variants.
Reproductive BioMedicine Online · May 21, 2022Peer-reviewedGenetic & Genomic Medicine