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Comprehensive analysis of hereditary cancers with PCR-free targeted sequencing using adaptive sampling

Poster

Date: 5th December 2022

Simple targeted sequencing of the human genome on a MinION Flow Cell allows SNP calling and phasing, methylation analysis, and genome-wide, low-pass copy number variant (CNV) analysis from a single nanopore sequencing dataset.

Download the poster to discover:

  • How adaptive sampling can be used for targeted analysis of a gene panel, here encompassing 201 cancer-related genes and >15,000 promoter regions across the human genome
  • How SNP calling and variant phasing can be performed on targeted nanopore sequence data, facilitating the study of compound heterozygosity
  • How targeted sequencing with adaptive sampling is completely PCR-free, enabling you to directly capture methylation patterns
  • How rejected, 'off-target' reads from adaptive sampling can be used to analysis CNVs 

Download the PDF

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