The Potential Usefulness of the Expanded Carrier Screening to Identify Hereditary Genetic Diseases: A Case Report from Real-World Data

Expanded carrier screening (ECS) means a comprehensive genetic analysis to evaluate an individual’s carrier status. ECS is becoming more frequently used, thanks to the availability of techniques such as next generation sequencing (NGS) and array comparative genomic hybridization (aCGH), allowing for...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser: Veneruso, Iolanda, Ranieri, Annaluisa, Falcone, Noemi, Tripodi, Lorella, Scarano, Carmela, La Monica, Ilaria, Pastore, Lucio, Lombardo, Barbara, D’Argenio, Valeria
Format: Online Artikel Text
Sprache:English
Veröffentlicht: MDPI 2023
Schlagworte:
Case Report
Online Zugang:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454493/
https://www.ncbi.nlm.nih.gov/pubmed/37628702
http://dx.doi.org/10.3390/genes14081651

Online

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454493/
https://www.ncbi.nlm.nih.gov/pubmed/37628702
http://dx.doi.org/10.3390/genes14081651

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