Index of /public/revio/2022Q4
Name Last modified Size Description
Parent Directory -
HG002-rep1/ 2022-12-26 22:32 -
HG002-rep2/ 2022-12-26 22:32 -
HG002-rep3/ 2022-12-26 22:32 -
HG003-rep1/ 2022-12-26 22:32 -
HG004-rep1/ 2023-04-12 12:50 -
WGS-variant-pipeline-analysis/ 2023-11-13 11:03 -
dv-model/ 2022-12-26 14:31 -
README.txt 2022-10-21 07:23 1.0K
OVERVIEW
This directory 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