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...

We propose a method to automatically extract templates from biomedical literature without background knowledge. The proposed method automatically extracts verbs and templates indicating interactions between biomolecules with a large dictionary called an extensional ontology. We applied our method to two datasets: one comprised 299 full texts from Cell (1998– 2002) and 13,818 entries from OMIM (...

Entrez is the text-based search and retrieval system used at NCBI for all of the major databases, including PubMed, Nucleotide and Protein Sequences, Protein Structures, Complete Genomes, Taxonomy, OMIM, and many others. Entrez is at once an indexing and retrieval system, a collection of data from many sources, and an organizing principle for biomedical information. These general concepts are t...