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Article
Open AccessWhole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428
Craniosynostosis (CS) is a major birth defect resulting from premature fusion of cranial sutures. Nonsyndromic CS occurs more frequently than syndromic CS, with sagittal nonsyndromic craniosynostosis (sNCS) pr...
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Article
Open AccessJoint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape
The cranial vault in humans is highly variable, clinically relevant, and heritable, yet its genetic architecture remains poorly understood. Here, we conduct a joint multi-ancestry and admixed multivariate geno...
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Article
Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus
Childhood-onset systemic lupus erythematosus (cSLE) patients are unique, with hallmarks of Mendelian disorders (early-onset and severe disease) and thus are an ideal population for genetic investigation of SLE...
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Article
Open AccessRare variant analyses across multiethnic cohorts identify novel genes for refractive error
Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER requi...
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Article
Open AccessWhat makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics
Genetic data have become increasingly complex within the past decade, leading researchers to pursue increasingly complex questions, such as those involving epistatic interactions and protein prediction. Tradit...
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Article
Open AccessGenome-wide linkage search for cancer susceptibility loci in a cohort of non BRCA1/2 families in Sri Lanka
Although linkage studies have been utilized for the identification of variants associated with cancer in the world, little is known about their role in non BRCA1/2 individuals in the Sri Lankans. Hence we perform...
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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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Article
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...
