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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Bibliographische Detailangaben
Veröffentlicht in:J Med Genet
Hauptverfasser: Walsh, Tom, Casadei, Silvia, Munson, Katherine M, Eng, Mary, Mandell, Jessica B, Gulsuner, Suleyman, King, Mary-Claire
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Publishing Group 2021
Schlagworte:
Structural Variation
Online Zugang: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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