how can I find the download link for a famous dataset

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3.8 years ago

Sara ▴ 240

I am looking for both fastq and vcf file of this dataset : NA12878.

I found this lind: https://www.internationalgenome.org/data-portal/sample/NA12878

but it is not clear which file belongs NA12878.

can you help me to find fastq and vcf file for NA12878 sample?

sequencing • 957 views

ADD COMMENT • link 3.8 years ago by Sara ▴ 240

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This sample has been sequenced hundreds of times with all technologies on the planet, so you'll have to be a bit more specific with regard to what you are looking for.

ADD REPLY • link 3.8 years ago by WouterDeCoster 47k

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@WouterDeCoster : well. I have a pipeline and trying to validate the pipeline. that is why I want to get this dataset and VCF file and use it for benchmarking. is that answer your question?

ADD REPLY • link 3.8 years ago by Sara ▴ 240

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No because you neither tell what the pipeline is doing nor which technology it assumes (PacBio, Nanopore, Illumina, MGI...Sanger).

ADD REPLY • link 3.8 years ago by ATpoint 81k

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the 1st pipeline is based on GATK and the 2nd one is based on DRAGEN. and the technology is Illumina.

ADD REPLY • link 3.8 years ago by Sara ▴ 240

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