Title |
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome
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Published in |
BMC Genomic Data, June 2014
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DOI | 10.1186/1471-2156-15-74 |
Pubmed ID | |
Authors |
Ren-Qiang Yang, Javad Jabbari, Xiao-Shu Cheng, Reza Jabbari, Jonas B Nielsen, Bjarke Risgaard, Xu Chen, Ahmad Sajadieh, Stig Haunsø, Jesper Hastrup Svendsen, Morten S Olesen, Jacob Tfelt-Hansen |
Abstract |
Marfan syndrome (MFS) is a rare autosomal dominantly inherited connective tissue disorder with an estimated prevalence of 1:5,000. More than 1000 variants have been previously reported to be associated with MFS. However, the disease-causing effect of these variants may be questionable as many of the original studies used low number of controls. To study whether there are possible false-positive variants associated with MFS, four in silico prediction tools (SIFT, Polyphen-2, Grantham score, and conservation across species) were used to predict the pathogenicity of these variant. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Netherlands | 1 | 3% |
France | 1 | 3% |
Unknown | 31 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 7 | 21% |
Student > Ph. D. Student | 6 | 18% |
Other | 5 | 15% |
Student > Bachelor | 3 | 9% |
Student > Master | 3 | 9% |
Other | 3 | 9% |
Unknown | 6 | 18% |
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Biochemistry, Genetics and Molecular Biology | 5 | 15% |
Computer Science | 1 | 3% |
Chemistry | 1 | 3% |
Other | 0 | 0% |
Unknown | 8 | 24% |