Posts Categorized: Websites



Tissue-based map of the human proteome

Posted by & filed under Tools, Websites.

Ulen et al. used an integrative omics approach to study the spatial human proteome. Samples representing all major tissues and organs in the human body were analyzed based on 24,028 antibodies corresponding to 16,975 protein-encoding genes, complemented with RNA-sequencing data for 32 of the tissues. A genome-wide analysis of the tissue specificity of RNA and […]



Treatable IEM causing intellectual disability

Posted by & filed under Part 06: DIAGNOSTIC APPROACHES, Treatment, Websites.

Dr. van Karnebeek and Dr. Stockler performed a systematic literature review for treatable inborn errors of metabolism causing intellectual disability. Recommendations for investigation of genetic causes of intellectual disability are usually based on the frequencies of single conditions and the yield of diagnostic methods. The objective of this manuscript was to identify all currently treatable […]



Human variome Project

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  ASHG 2007 To see the presentations given October 25th at ASHG 2007 (San Diego), go to the HVP website http://www.humanvariomeproject.org/ and click on the link at the bottom of the page. To see how microattribution of credit could eventually be given in mutation databases, look at this Nature Genetics editorial: Human Variome Microattribution Reviews […]



New OMMBID interface

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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

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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

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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 […]



Human Variome Project

Posted by & filed under Part 02: PERSPECTIVES, Websites.

To get updated news on the Human Variome Project, please visit this site:   http://www.variome.org/?p=News   Thank you very much in advance for your contributions to this blog (Click on login to register and post a message). Philippe Campeau, MD Resident in Medical Genetics at McGill University OMMBID Blog Administrator



Human Variome Project

Posted by & filed under Part 03: GENERAL THEMES, Websites.

  The Human Variome Project participants have met in 2006 and have established 96 recommendations for the collection and accessibility of variations in the human genomic DNA.   Nat Genet. 2007 Apr;39(4):433-6. Recommendations of the 2006 Human Variome Project meeting. Cotton RG; participants of the 2006 Human Variome Project meeting; Appelbe W, Auerbach AD, Becker […]



Human Variome Project

Posted by & filed under Part 03: GENERAL THEMES, Websites.

  The Human Variome Project participants have met in 2006 and have established 96 recommendations for the collection and accessibility of variations in the human genomic DNA.   Nat Genet. 2007 Apr;39(4):433-6. Recommendations of the 2006 Human Variome Project meeting. Cotton RG; participants of the 2006 Human Variome Project meeting; Appelbe W, Auerbach AD, Becker […]



1000$ Genome

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Nature Genetics asked scientists: What would you do if it became possible to sequence the equivalent of a full human genome for only $1,000? Click here to see their answers.   Philippe Campeau