https://ogma.newcastle.edu.au/vital/access/ /manager/Index en-au 5 Transcriptome-wide association study of breast cancer risk by estrogen-receptor status https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:42701 Wed 22 Mar 2023 15:07:38 AEDT ]]> A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:42894 Tue 06 Sep 2022 14:32:21 AEST ]]> Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:50043 Thu 29 Jun 2023 14:38:49 AEST ]]> Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20380 g) across functional categories (while accounting for shared variance due to linkage disequilibrium). Extensive simulations showed that in contrast to current estimates from GWAS summary statistics, the variance-component approach partitions heritability accurately under a wide range of complex-disease architectures. Across the 11 diseases DNaseI hypersensitivity sites (DHSs) from 217 cell types spanned 16% of imputed SNPs (and 24% of genotyped SNPs) but explained an average of 79% (SE = 8%) of h²g from imputed SNPs (5.1× enrichment; p = 3.7 × 10⁻¹⁷) and 38% (SE = 4%) of h²g from genotyped SNPs (1.6× enrichment, p = 1.0 × 10⁻⁴). Further enrichment was observed at enhancer DHSs and cell-type-specific DHSs. In contrast, coding variants, which span 1% of the genome, explained <10% of h²g despite having the highest enrichment. We replicated these findings but found no significant contribution from rare coding variants in independent schizophrenia cohorts genotyped on GWAS and exome chips. Our results highlight the value of analyzing components of heritability to unravel the functional architecture of common disease.]]> Sat 24 Mar 2018 07:58:12 AEDT ]]> Modeling linkage disequilibrium increases accuracy of polygenic risk scores https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:23379 2 increased from 20.1% to 25.3% in a large schizophrenia dataset and from 9.8% to 12.0% in a large multiple sclerosis dataset. A similar relative improvement in accuracy was observed for three additional large disease datasets and for non-European schizophrenia samples. The advantage of LDpred over existing methods will grow as sample sizes increase.]]> Sat 24 Mar 2018 07:16:29 AEDT ]]> Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:23305 Sat 24 Mar 2018 07:16:19 AEDT ]]> Partitioning heritability by functional annotation using genome-wide association summary statistics https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:23306 Sat 24 Mar 2018 07:16:19 AEDT ]]>