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Article

Prioritization of putatively detrimental variants in euploid miscarriages.

Scientific reports - 7 Feb 2022

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

Abstract excerpt

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...

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Identifiers

PMID: 35132093
DOI: 10.1038/s41598-022-05737-3
PMCID: PMC8821623

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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