To help the biomedical scientist pre-confirm the disease-related genes, we considered these gene as a whole research set and analyzed the topological features of their interaction network. Two strategies had been proposed to construct the disease-related gene network from the OMIM database. Using these two constructed sets, we trained two support vector machine prediction models, the accuracy o...

In this paper, we introduce an application of Proxima and define a new measure of proximity between two concepts present in an ontology. The approach is based on the three dimensions of a conceptualization: intention with relations between concepts, expression with terms denoting concepts, and extension with instances of concepts. This preliminary work, in the field of rare diseases, involved t...

BACKGROUND Despite international initiatives like Orphanet, it remains difficult to find up-to-date information about rare diseases. The aim of this study is to propose an exhaustive set of queries for PubMed based on terminological knowledge and to evaluate it versus the queries based on expertise provided by the most frequently used resource in Europe: Orphanet. METHODS Four rare disease te...

UNLABELLED We present a practical computational pipeline to readily perform data analyses of protein-protein interaction networks by using genetic and functional information mapped onto protein structures. We provide a 3D representation of the available protein structure and its regions (surface, interface, core and disordered) for the selected genetic variants and/or SNPs, and a prediction of ...

ALFRED (http://alfred.med.yale.edu) is a free, web accessible, curated compilation of allele frequency data on DNA sequence polymorphisms in anthropologically defined human populations. Currently, ALFRED has allele frequency tables on over 663,400 polymorphic sites; 170 of them have frequency tables for more than 100 different population samples. In ALFRED, a population may have multiple sample...

To understand disease relationships in terms of their genetic mechanisms, it is important to study the common genetic basis among different diseases. Although discoveries on pleiotropic genes related to multiple diseases abound, methods flexibly applicable to various types of datasets generated from different studies or experiments are needed to gain big pictures on the genetic relationships am...

, © Wells This article is distributed under the terms of the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and redistribution in any medium, provided that the original author and source are credited. Mendelian randomisation is a technique which, fuelled by the results of GWA studies, can be used to determine causal relationships between in...

Sialic acid storage disease (Salla disease) is an autosomal recessive disorder caused by mutations in a lysosomal sialic acid export protein, SLC17A5 (OMIM #604369). This disorder was initially described in Northern Finland but more recently has been reported in patients of other ethnicities. We describe the clinical presentation and the neuroimaging findings of two non-Finnish children where a...

From the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore Received January 31, 2007; accepted for publication February 15, 2007; electronically published March 8, 2007. Address for correspondence and reprints: Dr. Victor A. McKusick, 1007 Blalock Building, Johns Hopkins Hospital, 600 N. Wolfe Street, Baltimore, MD 21287-4922. E-mail: mckusic...

IV (OMIM 146700) is the most common ichthyosis with an estimated prevalence of 1:250–1000, and is inherited in a semidominant pattern [1]. Patients have light grey scaling, keratosis pilaris, increased palmoplantar markings and associated atopic manifestations. Involvement is generally mild and may vary greatly with climate and humidity. There is reduced or absence of keratohyalin granules in t...