Main menu

Targeted haplotyping in pharmacogenomics using Oxford Nanopore Technologies’ adaptive sampling


The primary aim of this study was to explore the use of Oxford Nanopore Technologies (ONT) adaptive sampling for targeted haplotyping in pharmacogenomics (PGx). The researchers sought to improve the identification of complex genetic variations and structural variants relevant to drug response. The study addressed the limitations of traditional methods like microarrays and short-read sequencing, which struggle to detect large structural variants and haplotype phasing. The researchers developed an enrichment strategy to target a panel of 1,036 genes associated with PGx using adaptive sampling.

Oxford Nanopore sequencing, specifically using the PromethION platform, was employed to carry out the targeted sequencing and enrichment. The study demonstrated that adaptive sampling improved the sequencing depth of targeted regions without additional sample preparation steps. They also showcased that three samples could be multiplexed on a single flow cell without significant drops in variant calling performance, achieving high recall (99.35%) and precision (99.84%) for targeted PGx variants.

Key findings of the study highlighted the advantages of long nanopore reads in accurately detecting single nucleotide variants (SNVs), indels, structural variants, and phasing haplotypes. The Oxford Nanopore-based method outperformed traditional short-read sequencing in identifying complex PGx regions. This approach is more flexible, allowing updates to the gene panel as new pharmacogenetic markers are discovered, potentially making it a cost-effective solution for clinical PGx applications.

Authors: Koen Deserranno, Laurentijn Tilleman, Kaat Rubben, Dieter Deforce, Filip Van Nieuwerburgh

入門

MinION Starter Packを購入 ナノポア製品の販売 シークエンスサービスプロバイダー グローバルディストリビューター

お問い合わせ

Intellectual property Cookie policy Corporate reporting Privacy policy Terms & conditions Accessibility

Oxford Nanoporeについて

Contact us 経営陣 メディアリソース & お問い合わせ先 投資家向け Oxford Nanopore社で働く BSI 27001 accreditationBSI 90001 accreditationBSI mark of trust
Japanese flag