OVERVIEW This includes human whole genome sequencing datasets from the Revio system for the Genome in a Bottle trio HG002+HG003+HG004, with one Revio SMRT Cell per sample replicate. DIRECTORIES dv-model DeepVariant model for Revio system HG002-rep1 HG002 replicate 1 HG002-rep2 HG002 replicate 2 HG002-rep3 HG002 replicate 3 HG003-rep1 HG003 replicate 1 HG004-rep1 HG004 replicate 1 METHODS SHEARING Megaruptor 3 to target size of 15-20 kb LIBRARY PREP SMRTbell prep kit 3.0 SEQUENCING Revio system, 24 hour movie ANALYSIS Generate HiFi reads with methylation calls on the Revio system Align to GRCh38_no_alt_analysis_set with pbmm2 v1.9.0 Call small variants with DeepVariant 1.4.0 using the Revio model Phase small variants and haplotag reads with whatshap 1.4 Call structural variants with pbsv v2.8.0
Access is restricted by the data custodian. The collection's description and structure are public; the data is not available for querying through this network.
PacBio Revio Genome in a Bottle Trio is published on Viral AI.