Has a pQTL analysis been conducted, and are the results, encompassing all variants (imputed, WES, or WGS), available for 1,500 proteins? Can REGENIE be used with WES/WGS data, and what specific considerations should be taken into account? Thanks
For "Has a pQTL analysis been conducted, and are the results, encompassing all variants (imputed, WES, or WGS), available for 1,500 proteins?" I think the answer is NO. Rachael W ?, please do you know better?
For "Can REGENIE be used with WES/WGS data, and what specific considerations should be taken into account?" There were two relevant webinars presented this year on this topic, please watch:
See this Nature publication by Sun et al which describes a pQTL analysis :
"mapping of 2,923 proteins that identifies 14,287 primary genetic associations, of which 81% are previously undescribed, alongside ancestry-specific pQTL mapping in non-European individuals. [ ... ]
To facilitate interactive queries, visualizations and bulk downloads of summary statistics for pQTL results, we created an interactive web portal, which is accessible at https://metabolomips.org/ukbbpgwas/ "
Comments
4 comments
For "Has a pQTL analysis been conducted, and are the results, encompassing all variants (imputed, WES, or WGS), available for 1,500 proteins?" I think the answer is NO. Rachael W ?, please do you know better?
For "Can REGENIE be used with WES/WGS data, and what specific considerations should be taken into account?" There were two relevant webinars presented this year on this topic, please watch:
https://www.youtube.com/watch?v=jN25SIGZFDE
https://www.youtube.com/watch?v=Ddutx0pLVO0
See this Nature publication by Sun et al which describes a pQTL analysis :
"mapping of 2,923 proteins that identifies 14,287 primary genetic associations, of which 81% are previously undescribed, alongside ancestry-specific pQTL mapping in non-European individuals. [ ... ]
To facilitate interactive queries, visualizations and bulk downloads of summary statistics for pQTL results, we created an interactive web portal, which is accessible at https://metabolomips.org/ukbbpgwas/ "
Thank you, Ondrej and Rachael, for addressing both questions. Best wishes, Ali.
Could you please provide me with access to the slides presented in the 'Efficiently Analyzing Large-Scale WGS Data' webinar? Thank you.
Please sign in to leave a comment.