Defining structural variation associated with breast cancer susceptibility by long-read genome sequencing

Germline structural variants (SVs) are challenging to identify by conventional genetic testing assays. Long-read sequencing has improved the global characterization of SVs, but its sensitivity at genetic loci associated with high- and moderate-penetrance cancer susceptibility has not been reported. This study used long-read genome sequencing performed on the Oxford Nanopore Technologies' PromethION to resolve variants underlying breast cancer susceptibility in sixteen individuals with pathogenic germline SVs in BRCA1, BRCA2, CHEK2 or PALB2.

Type: Whole Genome Sequencing
Archiver: Federated European Genome-Phenome Archive (FEGA Canada)

1 Dataset

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Dataset ID	Description	Technology	Samples
EGAD50000000283	Defining structural variation associated with breast cancer susceptibility by long-read genome sequencing		1