gnomAD and Bravo to download loss-of-function annotation

Hi All,

I want to download the annotation of 'loss-of-function' annotation in gnomAD and Bravo database. However, it seem you can find these annotation when using web service. When you download the data-base, these annotation were not included in the files. Why? Any suggestion?

http://gnomad.broadinstitute.org/

https://bravo.sph.umich.edu/freeze3a/hg19/

Update: Problem solved. The annotation is actually existed in the download VCF files after 'VEP='

Thanks.

gnomad bravo loss-of-function

• 2,127 views • link

updated 7.4 years ago by Biostar

• written 7.8 years ago by Shicheng Guo

Is there any reason you cannot do this annotation yourself?

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written 7.8 years ago by WouterDeCoster

I tried different approaches. However, none of them could provide as comprehensive annotation as gnomAD annotation. They have the following categories.

start_lost
missense_variant
inframe_deletion
splice_donor_variant
splice_region_variant
frameshift_variant
inframe_insertion
stop_gained
splice_acceptor_variant
stop_lost
stop_retained_variant

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written 7.8 years ago by Shicheng Guo

0 answers

No answers yet.

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