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Current Updates on Expanded Carrier Screening: New Insights in the Omics Era.

Medicina (Kaunas, Lithuania) - 21 Mar 2022

Veneruso Iolanda, Di Resta Chiara, Tomaiuolo Rossella, D'Argenio Valeria

Abstract excerpt

Genetic carrier screening has been successfully used over the last decades to identify individuals at risk of transmitting specific DNA variants to their newborns, thus having an affected child. Traditional testing has been offered based on familial and/or ethnic backgrounds. The development of high-throughput technologies, such as next-generations sequencing, able to allow the study of large genomic regions in a...

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Identifiers

PMID: 35334631
DOI: 10.3390/medicina58030455
PMCID: PMC8951681

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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