This collection contains the results of a whole genome sequence (WGS) variant analysis pipeline applied to sequencing datasets from the Revio system for the Genome in a Bottle Ashkenazi Jewish trio HG002-4 and the Han Chinese trio HG005-7, with one Revio SMRT Cell per sample replicate. The pipeline performs read alignment, variant calling, and phasing. It also conducts joint-calling of small variants and structural variants for cohorts, along with variant filtering and annotation. Data Location: US, Canada License: Public (see also PacBio datasets webpage) Data Source for Pipeline Input: HG002-HG004; HG005-HG007 Contact for Input Data: via form on PacBio datasets webpage Contact for Pipeline: bioinformatics@dnastack.com
This collection is openly accessible.
Genome in a Bottle is published on HiFi Solves.