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de novo mutation

asked 2016-07-05 12:06:43 -0700

Chrigi Alto gravatar image

updated 2016-07-07 10:00:51 -0700

I want to know my de novo mutations. So I hav to look for NGS Family Analysis Tutorial. ok

There I have to download a zip file called NGS Family Analysis.zip for starting the project. I did that and unzipped it.

So then it gets weird. the file only contains files tmp, data and map and a ghp file.

When I do start golden helix browser and I want to open this project it isn't possible!

Please help!

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Additional question: Is it possible not only to find out de novo mutations in exomes, rather to find all de novo mutations like in introns and intergenetic regions?

Chrigi Alto ( 2016-07-06 06:58:19 -0700 )edit

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answered 2016-07-11 10:36:06 -0700

Dear Chrigi,

GenomeBrowse is for visualization purposes only and does not have functionality for identifying de Novo mutations.

The tutorials available on our website are designed for our analysis software SNP & Variation Suite (SVS). SVS allows you to perform analysis on data in supported formats, to identify de Novo candidates you will minimally need VCF files for your proband and at least one parent.

If you would like to try out SVS for your analysis needs please go to our website at the following link and click the button to request a trial of the software.

http://goldenhelix.com/products/SNP_Variation/index.html

Please let us know how we can help you further.

Thanks, Jami... Golden Helix, Inc.

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Asked: 2016-07-05 12:06:43 -0700

Seen: 20 times

Last updated: Jul 11 '16