fengxialiu's repositories
25836
wgs pipe and drug
cnvkit
Copy number variant detection from targeted DNA sequencing
CNVpytor
a python extension of CNVnator -- a tool for CNV analysis from depth-of-coverage by mapped reads
copy-number-analysis
Explore, compare, and evaluate Bioconductor packages related to genomic copy number analysis
Cyrius
A tool to genotype CYP2D6 with WGS data
ensembl-vep
The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants
gencore
Generate consensus reads to reduce sequencing noises and remove duplications
hgvs
Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
pe
pe reads
SpliceAI
A deep learning-based tool to identify splice variants
TCAG-WGS-CNV-workflow
Scripts involved in our workflow for detecting CNVs from WGS data using read depth-based methods
testgit
git learn
WGS_WDL
妇幼WGS的WDL版流程