Use thresholds to label variants as benign and pathogenic

monarch-initiative / Squirls

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

https://squirls.readthedocs.io/en/master

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Use thresholds to label variants as benign and pathogenic #7

Closed ielis closed 4 years ago

ielis commented 4 years ago

The site-specific estimators define threshold for labeling the variant as benign/pathogenic. Use thresholds to perform the classification and indicate the results in the output files

ielis commented 4 years ago

The following commands now support the threshold:

annotate-pos
annotate-csv
annotate-vcf

ielis commented 4 years ago

Done