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NA12878, NA12891 and NA12892 gold standard samples information

Hello, I'm building a pipeline For CNV calling and I would like to validate using this trios NA12878, NA12891 and NA12892. I don't know where I can find the BAM files and the golden CNV. I have this link https://github.com/genome-in-a-bottle/giab_data_indexes but only NA12878 BAM is available.

Thank you.

standard gold variant bam calling
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updated by GenoMax GenoMax • written by heureuse • heureuse

1 answer

Sequence data and other files are available via links noted on Illumina's platinum genomes page: https://www.illumina.com/platinumgenomes.html

Original sequence data can be obtained from BaseSpace share and VCF's from AWS.

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written by GenoMax GenoMax

yes I saw them there as well but I don't know how to download the BAM. Thanks

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written by heureuse • heureuse

You will need to download the fastq data and align it yourself, if BAM's are not available. You should probably do that for all three to be consistent.

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written by GenoMax GenoMax

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