golden genome NA12878

Question

[heureuse]

Hello,

Do you know where I can find sample WGS of NA12878 and how I can convert it in gVCF format ?

thank you

Answer 1

[GenoMax]

NA12878 = HG001 from HapMap project.

Latest VCF is available here: https://ftp-trace.ncbi.nlm.nih.gov/ReferenceSamples/giab/release/NA12878_HG001/latest/GRCh38/

If you need gVCF, you can't convert a VCF to gVCF (see convert VCF to gVCF ). You will need to start with fastq/BAM. Links for those files are available here: https://github.com/genome-in-a-bottle/giab_data_indexes

[heureuse]

Thanks a lot