Prioritization of putatively detrimental variants in euploid miscarriages

• Published in: Scientific reports Vol. 12; no. 1; pp. 1997 - 12
• Main Authors: Buonaiuto, Silvia, Biase, Immacolata Di, Aleotti, Valentina, Ravaei, Amin, Marino, Adriano De, Damaggio, Gianluca, Chierici, Marco, Pulijala, Madhuri, D’Ambrosio, Palmira, Esposito, Gabriella, Ayub, Qasim, Furlanello, Cesare, Greco, Pantaleo, Capalbo, Antonio, Rubini, Michele, Biase, Sebastiano Di, Colonna, Vincenza
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 07.02.2022; Nature Publishing Group; Nature Portfolio
• Subjects: 631/208/212/2301; 631/208/2489/1381; Abortion, Spontaneous - genetics; Aneuploidy; Animals; Body mass index; Cell Cycle Proteins - genetics; Chromosomal Proteins, Non-Histone - genetics; Chromosome 9; Chromosomes; Chromosomes, Human, Pair 9 - genetics; Cohesin; Cohesins; Embryos; Female; Genetic Association Studies; Genetic Predisposition to Disease - genetics; Genetic Variation - genetics; Genomes; Genomics; Gestational age; Humanities and Social Sciences; Humans; Inactivation; Medical records; Mice; Miscarriage; Mothers; multidisciplinary; Mutation; Nuclear Proteins; Pregnancy; Receptors, Notch - genetics; Repressor Proteins; Science; Science (multidisciplinary); Wnt protein; Wnt Proteins - genetics

Miscarriage is the spontaneous termination of a pregnancy before 24 weeks of gestation. We studied the genome of euploid miscarried embryos from mothers in the range of healthy adult individuals to understand genetic susceptibility to miscarriage not caused by chromosomal aneuploidies. We developed...