Filter VCFs with ExAC data

Tool:Filter VCFs with ExAC data

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9.5 years ago

peter.krawitz ▴ 40

Hi folks,

The exome aggregation consortium, ExAC, just made genotype data of more than 65,000 exomes available. We updated GeneTalk's genotype frequency database, so that anyone can filter vcf files with this great data set.

Cheers,
peter

next-gen SNVs exome filter • 4.5k views

ADD COMMENT • link updated 2.2 years ago by Ram 43k • written 9.5 years ago by peter.krawitz ▴ 40

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The imminent release of gemini will include ExAC allele frequencies for each VCF variant loaded into the GEMINI database framework.

ADD REPLY • link updated 2.2 years ago by Ram 43k • written 9.5 years ago by Aaronquinlan 12k

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Hi Do you know if the release of gemini has added ExAC frequencies?.

ADD REPLY • link 9.4 years ago by hns ▴ 150

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It is available in the development repository on Github, but not yet as a formal release. I expect that to happen in the next several days.

ADD REPLY • link 9.4 years ago by Aaronquinlan 12k

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Awesome @Aaronquinlan ... waiting to use it in our workflow.

ADD REPLY • link 9.4 years ago by hns ▴ 150

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Hi Aaron,

Is it launched yet?

ADD REPLY • link 9.4 years ago by hns ▴ 150

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great, thanks for sharing!

ADD REPLY • link 9.5 years ago by Christian ★ 3.0k

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