We can run EvaluateCNV to produce recall and precision metrics for Dragen-CNV.
https://github.com/Illumina/canvas
Download the standard (NA12878) CNV data from DGV database(>50bp).
http://dgv.tcag.ca/dgv/app/home
We can run VCAT to produce recall and precision metrics for SNV and Indel.
https://www.illumina.com/products/by-type/informatics-products/basespace-sequence-hub/apps/variant-calling-assessment-tool.html
基于CNV的注释数据库:
https://decipher.sanger.ac.uk
http://cnvcalc.clinicalgenome.org/cnvcalc/
基于clinvar的CNV数据库注释:
(关注pathogenic/ probably pathogenic去掉 “likely benign,” and “benign"保留VUS, variant of unknown significance)
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/variant_summary.txt.gz
对于关联基因的筛选应包含:
OMIM (Online Mendelian Inheritance in Man)以及ACMG list 56 medically actionable genes
拷贝数变异常用的软件:CoNIFER
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