A Genome-wide Genetic Data Resource for the 45 and Up Study

A research team generated and validated new genomic data within the Australian 45 and Up Study, one of the largest cohorts in the Southern Hemisphere with extensive longitudinal and linked health records. In 2022-2023, 30,541 participants were invited, focusing on individuals with a history of four most common invasive cancers: breast, prostate, melanoma, and colorectal cancer. Using low-coverage sequencing and subsequent imputation, approximately 79 million variants were obtained for 7,408 individuals, of which 6,827 passed stringent quality control. Most participants with high-quality data had European genetic ancestry (98%), while 2% had non-European or admixed ancestry. Polygenic risk scores for the four most common cancers showed predictive performance consistent with previous studies. This new data resource substantially enhanced the 45 and Up Study and supports research into disease etiology, risk stratification, and precision medicine in Australia and globally.