gNALI¶

gNALI (gene nonessentiality and loss-of-function identifier) is a tool to find and filter (high-confidence) potential loss-of-function variants of human genes. gNALI has built-in support for gnomADv2.1.1 and gnomadv3.1.1 and can be configured to be used with other VCF databases.

NOTE: loss-of-function is influenced by the genome build. Not all variants available in gnomADv2.1.1 are available in gnomADv3.1.1 and vice versa.

Release¶

gNALI 1.1.0

This release adds functionality to work with VCF records with multiple transcripts and fixes handling of overlapping genes.

Resources¶

• Source: https://github.com/phac-nml/gnali
• Bioconda: https://bioconda.github.io/recipes/gnali/README.html
• Galaxy Toolshed: https://toolshed.g2.bx.psu.edu/

Contact¶

• Gary Van Domselaar: [email protected]

• Xia Liu: [email protected]