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...

Cur síos iomlán

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí: Veneruso, Iolanda, Ranieri, Annaluisa, Falcone, Noemi, Tripodi, Lorella, Scarano, Carmela, La Monica, Ilaria, Pastore, Lucio, Lombardo, Barbara, D’Argenio, Valeria
Formáid: Online Alt Téacs
Teanga:English
Foilsithe / Cruthaithe: MDPI 2023
Ábhair:
Case Report
Rochtain ar líne:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454493/
https://www.ncbi.nlm.nih.gov/pubmed/37628702
http://dx.doi.org/10.3390/genes14081651

Ar líne

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

Míreanna comhchosúla