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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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Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: Walsh, Tom, Casadei, Silvia, Munson, Katherine M, Eng, Mary, Mandell, Jessica B, Gulsuner, Suleyman, King, Mary-Claire
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 2021
Fag:
Online adgang: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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