Main menu

Oxford Nanopore Support

Support

Subscribe

Can't find the answer you are looking for?

Talk to us using the support function.

Can I detect SNP/indels (insertions and deletions) from whole human sequence data?

Can I detect SNP/indels (insertions and deletions) from whole human sequence data?

Yes, we support a pair of workflows that are implemented to support the discovery and annotation of human genetic variants.

The wf-human-variation workflow has been implemented for the analysis of germline genomes and uses the Clair3 method for calling of SNPs.

The Clair3 method is also used in the wf-somatic-variation workflow that may be used to call SNP variants in tumour samples that may be sequenced in combination with a paired normal sample.

While these workflows have been implemented for human use cases, they can also be used for non-human analyses when an appropriate reference genome is supplied.

For SNV variant calling in smaller (and haploid) genomes we offer a workflow, wf-bacterial-genomes, that uses the Medaka software to call variants relative to a provided reference sequence.

Back to software FAQs

入门指南

购买 MinION 启动包 Nanopore 商城 测序服务提供商 全球代理商

联系我们

知识产权 Cookie 政策 企业报告 隐私政策 条件条款 前瞻性陈述

关于 Oxford Nanopore

联系我们 领导团队 媒体资源和联系方式 投资者 在 Oxford Nanopore 工作 BSI 27001 accreditationBSI 90001 accreditationBSI mark of trust
Chinese flag