1 Hit in 0.74 sec

ClinVAP: a reporting strategy from variants to therapeutic options

2019 Bioinformatics  
The resulting JSON-based report is suited for automated downstream processing, but ClinVAP can also automatically render the information into a user-defined template to yield a human-readable report.  ...  Clinical Variant Annotation Pipeline (ClinVAP) is an automated pipeline which annotates, filters and prioritizes somatic single nucleotide variants provided in variant call format.  ...  Acknowledgements The authors would like to thank Nisar Malek, Kristina Ruhm, Julian Goetze and Holger Stenzhorn for their helpful comments.  ... 
doi:10.1093/bioinformatics/btz924 pmid:31830259 pmcid:PMC7141851 fatcat:r7gnxl7qbvbkxdmi3vtm5a3mqy