14 Result(s)
within
Claire L. Simpson
English
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Article
Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33
Myopia is one of the most common ocular disorders in the world, yet the genetic etiology of the disease remains poorly understood. Specialized founder populations, such as the Pennsylvania Amish, provide the o...
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Open AccessExome genoty** and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families
Myopia is one of most common eye diseases in the world and affects 1 in 4 Americans. It is a complex disease caused by both environmental and genetics effects; the genetics effects are still not well understoo...
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Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replicat...
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Open AccessMeta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error
Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM con...
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Open AccessGenome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium
To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 co...
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Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma
Tin Aung, Christopher Hammond and colleagues report the results of a large genome-wide association study of intraocular pressure. They identify four new loci associated with this trait and show that three of t...
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Open AccessFalse-positive rates in two-point parametric linkage analysis
Two-point linkage analyses of whole genome sequence data are a promising approach to identify rare variants that segregate with complex diseases in large pedigrees because, in theory, the causal variants have ...
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Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
Nat. Genet. 45, 314–318 (2013); doi:10.1038/ng.2554; published online 10 February 2013; corrected after print 9 May 2013 In the version of this article initially published, the affiliations of Daniel W.H. Ho w...
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Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
Caroline Klaver and colleagues report a meta-analysis for refractive error and myopia, including 37,382 individuals from 27 European studies and 8,376 individuals from 5 Asian studies, as part of the Consortiu...
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Open AccessLarge scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium
Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Cauc...
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Open AccessComparison of results from tests of association in unrelated individuals with uncollapsed and collapsed sequence variants using tiled regression
Tiled regression is an approach designed to determine the set of independent genetic variants that contribute to the variation of a quantitative trait in the presence of many highly correlated variants. In thi...
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Open AccessPerformance of random forests and logic regression methods using mini-exome sequence data
Machine learning approaches are an attractive option for analyzing large-scale data to detect genetic variants that contribute to variation of a quantitative trait, without requiring specific distributional as...
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Article
Open AccessOld lessons learned anew: family-based methods for detecting genes responsible for quantitative and qualitative traits in the Genetic Analysis Workshop 17 mini-exome sequence data
Family-based study designs are again becoming popular as new next-generation sequencing technologies make whole-exome and whole-genome sequencing projects economically and temporally feasible. Here we evaluate...
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Article
Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis
