Characterisation of BRCA1 and BRCA2 genes and variant calling using nanopore sequencing

Nanopore sequencing can be paired with multiplexed amplification assays for BRCA variant detection, or used with adaptive sampling for simultaneous determination of mutation and methylation status.

Download the poster to discover:

  • The importance of BRCA1 and BRCA2 genes in maintaining genome stability
  • How BRCA1/2 mutation status can be determined using a commercial PCR assay
  • How longer amplicons can be sequenced with nanopore technology, for variant identification and phasing across BRCA1 and BRCA2 gene regions
  • How adaptive sampling can be used for targeted cancer gene sequencing

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