An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease

BACKGROUND: Despite the new next-generation sequencing (NGS) molecular approaches implemented the genetic testing in clinical diagnosis, copy number variation (CNV) detection from NGS data remains difficult mainly in the absence of bioinformatics personnel (not always available among laboratory reso...

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Detalles Bibliográficos
Autores principales: Corsini, Serena, Pedrini, Elena, Patavino, Claudio, Gnoli, Maria, Lanza, Marcella, Sangiorgi, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9273874/
https://www.ncbi.nlm.nih.gov/pubmed/35837302
http://dx.doi.org/10.3389/fendo.2022.874126

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9273874/
https://www.ncbi.nlm.nih.gov/pubmed/35837302
http://dx.doi.org/10.3389/fendo.2022.874126

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