[DIYbio] Re: 23andMe exomes

Hi,


The Personal Genome Project has a couple participants that have donated their 23andme exome data to be public through our IRB-approved open consent process. You can find the VCF files linked as "source data" on the interpretations here: http://evidence.personalgenomes.org/genomes  You can also find them linked on individual profile pages, e.g.: https://my.personalgenomes.org/profile/hu97DB4A

The VCF format might be frustrating to you in that it fails to distinguish between "not sufficiently covered to make a genotype call" and "matches the reference genome". (It is theoretically possible to report this, but to date it's only been done in a base-by-base manner, which results in ridiculously large files.)

  -- Madeleine

On Thursday, May 17, 2012 8:56:41 AM UTC-4, Bastian Greshake wrote:
Hi there,
I'm currently working on adding support for 23andMe-exomes to openSNP.org I'd like to start by adding and parsing the VCF-files which are provided through 23andMe. Unfortunately I'm personally not among the exome-customers, so I'm in a dire need for some files to test my parsing-scripts.

Did some of you maybe got their exome sequenced through 23andMe and could provide me with their VCF-file? I won't publish the data, I just need them for unit-testing on my development machine.

Cheers,
Bastian
 
--
// Bastian Greshake
// Zehnthofstraße 36
// 55252 Mainz-Kastel, Germany
// cell: +49 176 213 044 66
// web: www.ruleofthirds.de






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