Comprehensive prenatal diagnostics: Exome versus genome sequencing

Objective This study aimed to assess the diagnostic yield of prenatal genetic testing using trio whole exome sequencing (WES) and trio whole genome sequencing (WGS) in pregnancies with fetal anomalies by comparing the results with conventional chromosomal microarray (CMA) analysis. Methods A total o...

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Veröffentlicht in:	Prenatal diagnosis 2023-08, Vol.43 (9), p.1132-1141
Hauptverfasser:	Miceikaite, Ieva, Fagerberg, Christina, Brasch‐Andersen, Charlotte, Torring, Pernille Mathiesen, Kristiansen, Britta Schlott, Hao, Qin, Sperling, Lene, Ibsen, Mette Holm, Löser, Katrin, Bendsen, Eske Alf, Ousager, Lilian Bomme, Larsen, Martin Jakob
Format:	Artikel
Sprache:	eng
Schlagworte:	Aneuploidy Anomalies Chromosome aberrations Copy number Fetuses Gene sequencing Genetic screening Genomes Phenotypes Prenatal diagnosis Villus Whole genome sequencing
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