Journal Club - GWAS Workshop

Cell Genomics, 1(1), 100004.

Volume 1, Issue 1, 13 October 2021, 100004

Workshop proceedings: GWAS summary statistics standards and sharing

Jacqueline A.L.MacArthur, AnnalisaBuniello, Laura W.Harris, JamesHayhurst, AoifeMcMahon, ElliotSollis, MariaCerezo, PeggyHall, ElizabethLewis, Patricia L.Whetzel, Orli G.Bahcall, Inês Barroso, Robert J.Carroll, MichaelInouye, Teri A.Manolio, Stephen S.Rich, Lucia A.Hindorff, KenWiley, HelenParkinson

[pdf] [notes] [page*]

* try to crash it by, say, engaging the diagram...

https://www.ebi.ac.uk/gwas/home

https://www.ebi.ac.uk/gwas/docs/api

https://www.ebi.ac.uk/gwas/downloads <-- note RDF and OWL ...

check what is called by https://www.ebi.ac.uk/gwas/search?query=rs7329174

or by https://www.ebi.ac.uk/gwas/studies/GCST001969

and by https://www.ebi.ac.uk/gwas/search?query=6:16000000-25000000

FTP : ftp://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/

Note parelelism with pgs: http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics, check for example, http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/Ahola-OlliAV_27989323_GCST004420

https://observablehq.com/@episphere/gwas

Compare with the sister EBI risk resource; https://observablehq.com/@episphere/pgs

...

Hackathon - GWAS Catalog

• Digital Pathology

• Quest JSON

• Biospecimen Connect sub-system

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