From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene

Next-generation sequencing (NGS) allows the detection of plentiful mutations increasing the rate of patients getting a positive diagnosis. However, while single-nucleotide variants (SNVs) or small indels can be easily detected, structural variations (SVs) such as copy number variants (CNVs) are ofte...

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Detalles Bibliográficos
Autores principales: Pyromali, Ioanna, Benslimane, Nesrine, Favreau, Frédéric, Goizet, Cyril, Lazaro, Leila, Vitry, Martine, Derouault, Paco, Sturtz, Franck, Magdelaine, Corinne, Lia, Anne-Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8878780/
https://www.ncbi.nlm.nih.gov/pubmed/35207700
http://dx.doi.org/10.3390/jpm12020212

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8878780/
https://www.ncbi.nlm.nih.gov/pubmed/35207700
http://dx.doi.org/10.3390/jpm12020212

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