CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes

Current clinical approaches for mutation discovery are based on short sequence reads (100–300 bp) of exons and flanking splice sites targeted by multigene panels or whole exomes. Short-read sequencing is highly accurate for detection of single nucleotide variants, small indels and simple copy number...

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Detalles Bibliográficos
Autores principales: Walsh, Tom, Casadei, Silvia, Munson, Katherine M, Eng, Mary, Mandell, Jessica B, Gulsuner, Suleyman, King, Mary-Claire
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Structural Variation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8046837/
https://www.ncbi.nlm.nih.gov/pubmed/33060287
http://dx.doi.org/10.1136/jmedgenet-2020-107320

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8046837/
https://www.ncbi.nlm.nih.gov/pubmed/33060287
http://dx.doi.org/10.1136/jmedgenet-2020-107320

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