Is there any dataset with only clinvar pathogenic variants information only?

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2 comments

  • Comment author
    Rachael W The helpers that keep the community running smoothly. UKB Community team Data Analyst

    Hi Akhil,

    No, there is not.

     

    All the Genomics-related datasets that the UKB currently provides are listed in Showcase within Category 100314 and its sub-categories, see https://biobank.ndph.ox.ac.uk/showcase/label.cgi?id=100314 .

     

    I imagine it would be useful to several researchers, but possibly not enough to be worth the extra storage space, especially as it would quickly get out of date. If a research group were to produce such a dataset, UKB bioinformaticians and science team experts would make a judgement about whether to make it available, and if so how to do that. Some data returned by researchers is made available as standard Fields, and some as a separately-downloadable file, but there is currently a policy not to allow download of potentially-identifying genetic data. At present, returned data is not uploaded to the RAP, but this is under consideration.

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  • Thank you so much for the response. I believe it would be worthy of keeping these as we move towards 500k wgs dataset. I will look into it and get back to you if any more questions

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