Posts Categorized: Tools



Targeted aCGH for mitochondrial and metabolic disorders

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Tools.

Targeted aCGH can be useful in the diagnosis of mitochondrial and metabolic disorders. Wang et al. have developed a custom designed oligonucleotide aCGH platform targeting the entire mitochondrial genome and a set of nuclear genes involving mitochondrial and metabolic disorders. This technology can be used to evaluate large deletions, particularly as a complementary diagnostic test […]



New OMMBID interface

Posted by & filed under Tools, Websites.

Have a look at the new and improved interface of The Online Metabolic and Molecular Bases of Inherited Diseases. http://genetics.accessmedicine.com/ Full table of contents Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment). Click this link to see the most recent online abstracts […]



Genome-wide association study compilation

Posted by & filed under Tools, Websites.

NCBI’s dbGaP (The database of Genotype and Phenotype) compiles results of studies that have investigated the interaction of genotype and phenotype. These include genome-wide association studies, which are published more and more. Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment). Click this […]



Mutalyzer

Posted by & filed under Tools, Websites.

This tool was created to help authors use the correct Human Genome Variation Society nomenclature.   Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment). Click this link to see the most recent online abstracts of major genetics. Philippe Campeau, MD Resident in Medical […]



The human disease network

Posted by & filed under Part 02: PERSPECTIVES, Part 03: GENERAL THEMES, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT, Tools.

Combining the efforts of great minds in the field of network science and medical genetics, this paper describes the diseasome, an integrated network of genetic disorders. See figure 13 for a great overview of some allelic conditions. Goh KI, Cusick ME, Valle D, Childs B, Vidal M, Barabasi AL. The human disease network. Proc Natl […]



See all recent abstracts

Posted by & filed under Tools.

Created using Internet Explorer 7, Google reader, Intelligentteams.com and Grazr. Use the buttons on top of the reader to change the view or open in a new window. Philippe Campeau