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Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

Whole-Exome Sequencing (WES) has proven valuable in the characterization of underlying genetic defects in most rare diseases (RDs). Copy Number Variants (CNVs) were initially thought to escape detection. Recent technological advances enabled CNV calling from WES data with the use of accurate and hig...

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Detalles Bibliográficos
Autores principales:	Tilemis, Faidon-Nikolaos, Marinakis, Nikolaos M., Veltra, Danai, Svingou, Maria, Kekou, Kyriaki, Mitrakos, Anastasios, Tzetis, Maria, Kosma, Konstantina, Makrythanasis, Periklis, Traeger-Synodinos, Joanne, Sofocleous, Christalena
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379589/ https://www.ncbi.nlm.nih.gov/pubmed/37510394 http://dx.doi.org/10.3390/genes14071490

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