Aris Baras

Abstract Polygenic risk scores (PRSs) strongly discriminate for prostate cancer risk at the population level. The role of these genetic scores in determining prostate cancer survival is unclear, potentially due to methodological issues. We included 19,607 men from the Malmö Diet and Cancer Study (MDCS) and the Health Professionals Follow-up Study (HPFS) and analyzed 20-year incidence and mortality (from full cohort analyses) and survival (from case-only analyses) according to a 451-variant PRS.

Abstract Pathogenic expansions of short tandem repeats (STRs) cause over 70 neurological diseases1,2,3. Here we performed a population-scale survey of pathogenic repeat expansions by analysing repeat length in 37 disease-associated STR loci in a diverse set of 1,020,833 samples using short-read sequencing whole-exome and whole-genome data. Consistent with previous findings, we found that the frequency of pathogenic repeats is higher than the prevalence of corresponding diseases for most loci4,5.

Abstract Myostatin negatively regulates skeletal muscle size in multiple species, and therefore, myostatin blockade has been therapeutically explored to promote muscle growth in humans, including to counter the muscle loss seen in obese humans using GLP1R agonists.