Genetic & Genomic MedicinemedRxivPreprint
ENCODE guided WGS analysis can identify trait associated regulatory regions driven by rare-variants
Jack Thomas Flanagan, Kisung Nam, Seung‐Geun Lee
The paper uses ENCODE-derived regulatory elements to analyze rare variants in WGS data, identifying 1,987 significant associations across 100 traits with high replication rates.
DOI 10.1101/2024.11.06.24316407