Scientific ReportsGenetic & Genomic MedicinePeer-reviewed journal article
Prioritization of putatively detrimental variants in euploid miscarriages
Silvia BuonaiutoiD, Immacolata Di Biase, Valentina AleottiiD, Amin RavaeiiD, Adriano De MarinoiD, Gianluca DamaggioiD, Marco ChiericiiD, Madhuri Pulijala, Palmira D’Ambrosio, Gabriella EspositoiD, Qasim AyubiD, Cesare FurlanelloiD, Pantaleo GrecoiD, Antonio CapalboiD, Michele RubiniiD, Sebastiano Di Biase, Vincenza ColonnaiD
Abstract
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 complex subunit, for which inactivation in mouse is lethal, and TLE4 a target of Notch and Wnt, physically interacting with a region on chromosome 9 associated to miscarriages.
- organism: mouse
- assay: whole-genome sequencing
- research focus: variant effect prediction
- approach: statistical model
- Citations
- 12
- FWCI
- 1.81
- Field percentile
- top 16%
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