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

October 2020

Tom Walsh, Silvia Casadei, Katherine M Munson, Mary Eng, Jessica B Mandell, Suleyman Gulsuner, Mary-Claire King

In this short report, researchers studying young-onset breast cancer used the SageHLS and HLS-CATCH method to purify high molecular weight targets containing the BRCA1 locus. Affected individuals in this study showed normal sequence based on gene panel and whole exome sequencing. Using long read (~10kb) and low input PacBio® HiFi™ sequencing on the HMW targets the researchers identified an SVA retrotransposon insertion in intronic regions of the BRCA1 locus that are homologous to a region on chr1. They were further able to show how BRCA1 transcription was affected.

Author Affiliations:
University of Washington, Seattle WA

Journal of Medical Genetics

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