Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error.

Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia

Applying Interactive Open Learner Models to Learning Technical Terminology

Abstract. Our work explores an interactive open learner modelling (IOLM) approach where learner diagnosis is considered as an interactive process involving both a computer system and a learner that play symmetrical (to a certain extent) roles and construct together the learner model. The paper presents an application of IOLM for diagnosing and fostering a learner's conceptual understanding in a terminological domain. Based on an experimental study, we discuss computational and educational benefits of IOLM in terms of improving the quality of the obtained learner model and fostering reflective thinking