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Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.
- Source :
- Genetics in medicine
- Publication Year :
- 2021
-
Abstract
- We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy.<br />SCOPUS: ar.j<br />info:eu-repo/semantics/published
Details
- Database :
- OAIster
- Journal :
- Genetics in medicine
- Notes :
- 2 full-text file(s): application/pdf | application/pdf, English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1313396924
- Document Type :
- Electronic Resource