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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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Walsh, Tom, Casadei, Silvia, Munson, Katherine M, Eng, Mary, Mandell, Jessica B, Gulsuner, Suleyman, King, Mary-Claire
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2021
Assuntos:
Structural Variation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8046837/
https://ncbi.nlm.nih.gov/pubmed/33060287
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2020-107320
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