Question: Question about opensource SNP tools from a Sysadmin
0
gravatar for aravindh
19 months ago by
aravindh0
aravindh0 wrote:

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.

snp genome • 365 views
ADD COMMENTlink written 19 months ago by aravindh0

Never heard about it, is it from this company?

http://www.bcplatforms.com

ADD REPLYlink modified 19 months ago • written 19 months ago by h.mon28k

and perform analysis on it.

You'll have to be a bit more specific here.

ADD REPLYlink written 19 months ago by WouterDeCoster42k

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.

ADD REPLYlink modified 19 months ago • written 19 months ago by cpad011212k
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