Prioritization of putatively detrimental variants in euploid miscarriages.
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ABSTRACT:
SUBMITTER: Buonaiuto S
PROVIDER: S-EPMC8821623 | biostudies-literature | 2022 Feb
REPOSITORIES: biostudies-literature
Publications
Prioritization of putatively detrimental variants in euploid miscarriages.
Buonaiuto Silvia S Biase Immacolata Di ID Aleotti Valentina V Ravaei Amin A Marino Adriano De A Damaggio Gianluca G Chierici Marco M Pulijala Madhuri M D'Ambrosio Palmira P Esposito Gabriella G Ayub Qasim Q Furlanello Cesare C Greco Pantaleo P Capalbo Antonio A Rubini Michele M Biase Sebastiano Di SD Colonna Vincenza V
Scientific reports 20220207 1
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 GP , a pipeline that we used to prioritize 439 unique variants in 399 genes, including genes known to be associated with miscarriages. Among the prioritized genes we found STAG2 coding for the cohesin ...[more]
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