Question about opensource SNP tools from a Sysadmin
Hello.
I'm a sysadmin with no knowledge of bioinformatics tools.
At my work, researchers are using a tool - BC SNP to store SNP data and perform analysis on it.
Are there any open source tools that we can use to replace it?
Thanks in advance for any suggestions.
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aravindh •
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Never heard about it, is it from this company?
http://www.bcplatforms.com
You'll have to be a bit more specific here.
For storing SNPs you can consider platforms like Gemini (https://gemini.readthedocs.io/en/latest/) and LOVD (http://www.lovd.nl/3.0/home). But I am not sure if they are compatible with commercial software output/export formats.
Since you are a sysadmin (assuming that you can handle db as well), you can create db (tables) using HL-7 (now FHIR) recommended clinical genomics database schema. FHIR (HL-7) clinical genomics furnishes UML (db schemal) as well, if i understand correct. They support versioning as well.