De novo calls from Ashkenazi GIAB samples

[Matthew Bainbridge]

The de novo calls for the Ashkenazi trio are visible in the browser, but is it possible to download them from UCSC or elsewhere?

Thanks very miuch

Matthew

[Matthew Speir]

Hello, Matthew.

Thank you for your question about the Genome in a Bottle data in the UCSC Genome Browser.

The underlying data, including for the Ashkenazi trio, can be downloaded directly from NCBI: https://ftp-trace.ncbi.nlm.nih.gov/ReferenceSamples/giab/release/. For display in the Genome Browser, variants were merged into a single VCF, available here: https://hgdownload.soe.ucsc.edu/gbdb/hg38/giab/AshkenazimTrio/. More details about the GIAB tracks can be found on the track description page: https://genome.ucsc.edu/cgi-bin/hgTrackUi?db=hg38&g=giab.

I hope this is helpful. If you have any further questions, please reply to gen...@soe.ucsc.edu. All messages sent to that address are archived on a publicly-accessible Google Groups forum. If your question includes sensitive data, you may send it instead to genom...@soe.ucsc.edu.

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Matthew Speir

UCSC Genome Browser, User Support

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