Main menu

Detecting and phasing minor single-nucleotide variants from long-read sequencing data


Cellular genetic heterogeneity is common in many biological conditions including cancer, microbiome, co-infection of multiple pathogens. Detecting and phasing minor variants, which is to determine whether multiple variants are from the same haplotype, play an instrumental role in deciphering cellular genetic heterogeneity, but are still difficult because of technological limitations.

Recently, long-read sequencing technologies, including those by Pacific Biosciences and Oxford Nanopore, have provided an unprecedented opportunity to tackle these challenges. However, high error rates make it difficult to take full advantage of these technologies. To fill this gap, we introduce iGDA, an open-source tool that can accurately detect and phase minor single-nucleotide variants (SNVs), whose frequencies are as low as 0.2%, from raw long-read sequencing data.

We also demonstrated that iGDA can accurately reconstruct haplotypes in closely-related strains of the same species (divergence 0.011%) from long-read metagenomic data. Our approach, therefore, presents a significant advance towards the complete deciphering of cellular genetic heterogeneity.

Authors: Zhixing Feng, Jose Clemente, Brandon Wong, Eric E. Schadt

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