Aoife McMahon
@aoifemcm.bsky.social
Immigrant scientist, genes etc @ EMBL-EBI
Reposted by Aoife McMahon
GWAS finds millions of variants — but what are the Predicted Effector Genes (PEGs)? Our Nature Genetics Perspective rdcu.be/eoqVk showed big inconsistencies.
At ASHG 2025, we’ll introduce a new standard to make PEG data FAIR.
🗓️ Ancillary Session: Oct 17 | 11:45 | Room 259A
📌Poster: Oct 16 | 2:30
At ASHG 2025, we’ll introduce a new standard to make PEG data FAIR.
🗓️ Ancillary Session: Oct 17 | 11:45 | Room 259A
📌Poster: Oct 16 | 2:30
Realizing the promise of genome-wide association studies for effector gene prediction
Nature Genetics - This Perspective argues that predicting effector genes for complex diseases is a key outcome of genetic association studies where standards are urgently needed to maximize...
rdcu.be
September 30, 2025 at 8:51 PM
GWAS finds millions of variants — but what are the Predicted Effector Genes (PEGs)? Our Nature Genetics Perspective rdcu.be/eoqVk showed big inconsistencies.
At ASHG 2025, we’ll introduce a new standard to make PEG data FAIR.
🗓️ Ancillary Session: Oct 17 | 11:45 | Room 259A
📌Poster: Oct 16 | 2:30
At ASHG 2025, we’ll introduce a new standard to make PEG data FAIR.
🗓️ Ancillary Session: Oct 17 | 11:45 | Room 259A
📌Poster: Oct 16 | 2:30
My colleague Ben is presenting our recent work on tools for applying polygenic scores (PGS) at #ISMB2025 in Liverpool today. Talking PGS Catalog Calculator (pgsc_calc) and our new web platform, GeneticScores.org, where you can upload genetic data and we run pgsc_calc for you!
July 22, 2025 at 10:58 AM
My colleague Ben is presenting our recent work on tools for applying polygenic scores (PGS) at #ISMB2025 in Liverpool today. Talking PGS Catalog Calculator (pgsc_calc) and our new web platform, GeneticScores.org, where you can upload genetic data and we run pgsc_calc for you!
Reposted by Aoife McMahon
Interested in the results of the BARCODE PRS-guided prostate cancer screening study last month in @nejm.org? Just added to the Catalog is the PRS that was used in the cohort: www.pgscatalog.org/score/PGS005.... This and more in the latest release!
May 20, 2025 at 1:31 PM
Interested in the results of the BARCODE PRS-guided prostate cancer screening study last month in @nejm.org? Just added to the Catalog is the PRS that was used in the cohort: www.pgscatalog.org/score/PGS005.... This and more in the latest release!