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WGLab / doc-ANNOVAR

Documentation for the ANNOVAR software
http://annovar.openbioinformatics.org
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Proposal / Suggestion: Integrate findBASE in ANNOVAR #110

Open tahirasma opened 4 years ago

tahirasma commented 4 years ago

Greetings!

A suggestion to integrate "FINDbase" database in ANNOVAR.This database records include the population and ethnic group, the disorder name and the related gene, accompanied by links to any corresponding locus-specific mutation database, to the respective Online Mendelian Inheritance in Man entries and the mutation together with its frequency in that population.

The URL for the findBASE is: http://www.findbase.org/#/

Regards,

kaichop commented 4 years ago

Thank you for the suggestion. It does not look like the data is publicly available, though you can query a specific variant in a specific population. I will study whether the data can be bulk downloaded and if there are license limitations to re-distribute.

On Mon, Sep 21, 2020 at 8:14 AM tahirasma notifications@github.com wrote:

Greetings!

A suggestion to integrate "FINDbase" database in ANNOVAR.This database records include the population and ethnic group, the disorder name and the related gene, accompanied by links to any corresponding locus-specific mutation database, to the respective Online Mendelian Inheritance in Man entries and the mutation together with its frequency in that population.

The URL for the findBASE is: http://www.findbase.org/#/

Regards,

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