Literature DB >> 11237009

Human disease genes.

G Jimenez-Sanchez1, B Childs, D Valle.   

Abstract

The complete human genome sequence will facilitate the identification of all genes that contribute to disease. We propose that the functional classification of disease genes and their products will reveal general principles of human disease. We have determined functional categories for nearly 1,000 documented disease genes, and found striking correlations between the function of the gene product and features of disease, such as age of onset and mode of inheritance. As knowledge of disease genes grows, including those contributing to complex traits, more sophisticated analyses will be possible; their results will yield a deeper understanding of disease and an enhanced integration of medicine with biology.

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Year:  2001        PMID: 11237009     DOI: 10.1038/35057050

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


  118 in total

Review 1.  Integrated regional genetic services: current and future provision.

Authors:  D Donnai; R Elles
Journal:  BMJ       Date:  2001-04-28

2.  A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6 variation leads to schizophrenia susceptibility.

Authors:  Aravinda Chakravarti
Journal:  Proc Natl Acad Sci U S A       Date:  2002-04-16       Impact factor: 11.205

3.  An integrative model for in-silico clinical-genomics discovery science.

Authors:  Yves A Lussier; Indra Nell Sarkar; Michael Cantor
Journal:  Proc AMIA Symp       Date:  2002

4.  Global survey of chromatin accessibility using DNA microarrays.

Authors:  M Ryan Weil; Piotr Widlak; John D Minna; Harold R Garner
Journal:  Genome Res       Date:  2004-07       Impact factor: 9.043

5.  Automating terminological networks to link heterogeneous biomedical databases.

Authors:  Xiaoyan Wang; Hui Nar Quek; Michael Cantor; Pauline Kra; Aylit Schultz; Yves A Lussier
Journal:  Stud Health Technol Inform       Date:  2004

6.  EFICAz: a comprehensive approach for accurate genome-scale enzyme function inference.

Authors:  Weidong Tian; Adrian K Arakaki; Jeffrey Skolnick
Journal:  Nucleic Acids Res       Date:  2004-12-01       Impact factor: 16.971

7.  Directional positive selection on an allele of arbitrary dominance.

Authors:  Kosuke M Teshima; Molly Przeworski
Journal:  Genetics       Date:  2005-10-11       Impact factor: 4.562

8.  Advances in translational bioinformatics: computational approaches for the hunting of disease genes.

Authors:  Maricel G Kann
Journal:  Brief Bioinform       Date:  2009-12-10       Impact factor: 11.622

9.  Null mutations in human and mouse orthologs frequently result in different phenotypes.

Authors:  Ben-Yang Liao; Jianzhi Zhang
Journal:  Proc Natl Acad Sci U S A       Date:  2008-05-05       Impact factor: 11.205

Review 10.  Using gene expression to investigate the genetic basis of complex disorders.

Authors:  Alexandra C Nica; Emmanouil T Dermitzakis
Journal:  Hum Mol Genet       Date:  2008-10-15       Impact factor: 6.150

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