Large-scale phenotype data are expected to increase the accuracy of genome-wide prediction and the power of genome-wide association analyses. However, genomic analyses of high-dimensional, highly correlated traits are challenging. We developed a method for implementing high-dimensional Bayesian multivariate regression to simultaneously analyze gene...
Phenotypic heterogeneity with variable severity has been reported in female carriers of retinitis pigmentosa GTPase regulator (RPGR) mutations, including a male-type phenotype. A phenomenon not fully understood is peripapillary retinal nerve fiber layer (pRNFL) thickening in male patients with RPGR-associated X-linked retinitis pigmentosa, especial...
Funder: Wellcome Trust / Cohort-wide sequencing studies have revealed that the largest category of variants is those deemed 'rare', even for the subset located in coding regions (99% of known coding variants are seen in less than 1% of the population. Associative methods give some understanding how rare genetic variants influence disease and organi...
Identification of protein quantitative trait loci (pQTL) helps understand the underlying mechanisms of diseases and discover promising targets for pharmacological intervention. For most important class of drug targets, genetic evidence needs to be generalizable to diverse populations. Given that the majority of the previous studies were conducted i...
Funder: National Institute for Health Research (NIHR) / Funder: Wellcome Trust / Not everyone who uses drugs loses control over their intake, which is a hallmark of addiction. Although familial risk studies suggest significant addiction heritability, the genetic basis of vulnerability to drug addiction remains largely unknown. In the present study,...
Microtia describes a spectrum of auricular malformations ranging from mild dysplasia to anotia. A vast majority of microtia patients demonstrate congenital aural atresia (CAA). Isolated microtia has a right ear predominance (58-61%) and is more common in the male sex. Isolated microtia is a multifactorial condition involving genetic and environment...
Published in American journal of ophthalmology
To analyze the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies. Multicenter international retrospective cohort study. Review of clinical notes, ophthalmic images, and genetic testing results of 104 patients (91 probands) with disease-causing CRB1 variants. Macular optical coherence tomography (OCT) par...
Rates of sharing of genome-wide association studies (GWAS) summary statistics are historically low, limiting potential for scientific discovery. Here we show, using GWAS catalog data, that GWAS papers that share data get on average 81.8% more citations, an effect that is sustained over time. / C.W. and G.R. are funded by the Wellcome Trust (WT22078...
Acknowledgements: We thank the patients and their families for participation. / BACKGROUND: Imprinting disorders (ImpDis) comprise diseases which are caused by aberrant regulation of monoallelically and parent-of-origin-dependent expressed genes. A characteristic molecular change in ImpDis patients is aberrant methylation signatures at disease-spec...
Rates of sharing of genome-wide association studies (GWAS) summary statistics are historically low, limiting potential for scientific discovery. Here we show, using GWAS catalog data, that GWAS papers that share data get on average 81.8% more citations, an effect that is sustained over time. / C.W. and G.R. are funded by the Wellcome Trust (WT22078...
