Measuring the accuracy of electronic health record (EHR)-based phenotyping in the All of Us Research Program to optimize statistical power for genetic association testing
Baierl, J. D., Hsiao et al.
Paper
Details
#EHRPhenotyping #GeneticAssociation #AllOfUsResearch

2/10 We then conducted #pharmacogenetic GWAS and rare variant burden tests. Discovery GWAS were conducted in the @ukbiobank.bsky.social and replication analyses in the #AllOfUSResearch. We don’t discover any new pharmacogenetic signals, but also don’t miss any major signal reported previously.

Calling all researchers! Have you seen any #CallForPapers on
#AllofUsResearch
or #MigraineResearch? Drop any leads here! #Neuroscience #HealthResearch
@amfmigraine.bsky.social
Thanks!

The GTEx V10 has been released. Compared to release V8, V10 has 12% more RNA-seq samples and 23% more samples used for eQTL analyses. V10 release includes new smallRNA-seq data from 16,760 tissue samples, including gene expression counts and cis-QTLs: buff.ly/4eMQb1V
#UKBiobank #AllofUsResearch

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability - Nature Genetics Phenome-wide analysis in the UK Biobank identifies GC-rich tandem repeat expansions associated with a range of traits, including a GCC expansion in AFF3 contributing to intellectual disability.

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability - Nature Genetics

#UKBiobank #AllofUsResearch #GenomicsEngland

New study reveals ATRNL1's key role in atrial fibrillation. Using single-nuclei RNA-seq, researchers identified its impact on cardiac conduction. Could ATRNL1 be the next therapeutic target for AF? doi.org/10.1038/s414...
#genetics #AF #UKBiobank #AllofUsResearch #GenomicsEngland #scRNAseq

Genomic data in the All of Us Research Program - Nature A study describes the release of clinical-grade whole-genome sequence data for 245,388 diverse participants by the All of Us Research Program and characterizes the properties of the dataset.

Genomics, race, & ethics clean-up in aisle..or figures 1-5. #AllOfUSResearch #ScientificMisconduct

Human genomic researchers need to stop using biased methods (population sampling, racial/ethnicity definitions, & problematic statistical models like UMAP) to misrepresent human diversity.