https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:45560 Wed 28 Feb 2024 15:21:35 AEDT ]]> Associations of autozygosity with a broad range of human phenotypes https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:45256 1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.]]> Wed 26 Oct 2022 20:06:39 AEDT ]]> Low-frequency variation in TP53 has large effects on head circumference and intracranial volume https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:45073 TP53, with 0.5 cm wider heads in increaser-allele carriers versus non-carriers during mid-childhood, suggesting a previously unrecognized role of TP53 transcripts in human cranial development.]]> Wed 26 Oct 2022 11:49:10 AEDT ]]> Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20501 Sat 24 Mar 2018 07:59:03 AEDT ]]> Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:42033 Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.]]> Mon 22 Aug 2022 10:16:20 AEST ]]>