Search Results - "Gosset, Simon"
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Development of a rare disease algorithm to identify persons at risk of Gaucher disease using electronic health records in the United States
Published in Orphanet journal of rare diseases (09-09-2023)“…Abstract Background Early diagnosis of Gaucher disease (GD) allows for disease-specific treatment before significant symptoms arise, preventing/delaying onset…”
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APPINetwork: an R package for building and computational analysis of protein-protein interaction networks
Published in PeerJ (San Francisco, CA) (04-11-2022)“…Protein-protein interactions (PPIs) are essential to almost every process in a cell. Analysis of PPI networks gives insights into the functional relationships…”
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SURFMAP: A Software for Mapping in Two Dimensions Protein Surface Features
Published in Journal of chemical information and modeling (11-04-2022)“…Molecular cartography using two-dimensional (2D) representation of protein surfaces has been shown to be very promising for protein surface analysis. Here, we…”
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Identification of predictive factors of diabetic ketoacidosis in type 1 diabetes using a subgroup discovery algorithm
Published in Diabetes, obesity & metabolism (01-07-2023)“…Aim To identify predictive factors for diabetic ketoacidosis (DKA) by retrospective analysis of registry data and the use of a subgroup discovery algorithm…”
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Can whole-exome sequencing data be used for linkage analysis?
Published in European journal of human genetics : EJHG (01-04-2016)“…Whole-exome sequencing (WES) has become the strategy of choice to identify causal variants in monogenic disorders. However, the list of candidate variants can…”
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