I want to build a tool using Hap.py Benchmarking (NIST) to validate any VCF file by running the file
Budget: $15 – $25 USD
The inputs to hap.py are two VCF files (a "truth" and a "query" file), the truth file is found here https://www.nature.com/articles/sdata201625/tables/3 which includes extensive genome sequencing for 1 person. So we can validate any VCF file by comparing our VCF with the truth VCF and the outcome will include a table with TP FP TN FN and precision with the sensitivity
you can read more about it on this page:
https://github.com/RealTimeGenomics/rtg-tools
https://github.com/Illumina/hap.py/blob/master/doc/happy.md#working-with-genome-vcfs
you can read more about it on this page:
https://github.com/RealTimeGenomics/rtg-tools
https://github.com/Illumina/hap.py/blob/master/doc/happy.md#working-with-genome-vcfs
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