Hallo,
for NGS validation I need public refence genomic data (annotated!), especially the variants annoted against GRCh 37. I am interested in the data from the HUREF and CEPH/UTAH pedigree 1463. Up to now, I was not successful with the NCBI link(ftp://ftp.ncbi.gov/genomes). Because, I am not a bioinformatic specialist I would be very grateful for a tip which a non-expert can handle.
Thanks
Bärbel
https://www.ncbi.nlm.nih.gov/bioproject/?term=PRJNA52009
Select what you need by following the links under SRA Experiments or BioSample in above link
Hi,
You can actually try in these links given below and order your interest.
https://www.coriell.org/1/HuRef
https://catalog.coriell.org/1/HuRef
Also you can try browsing in omicX - HUREF Genome Browser
https://omictools.com/huref-genome-browser-tool
Kindly refer this article also -
https://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.0050254
All the best
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