Computational Methods to Work as First-Pass Filter in Deleterious SNP Analysis of Alkaptonuria
A major challenge in the analysis of human genetic variation is to distinguish functional from nonfunctional SNPs. Discovering these functional SNPs is one of the main goals of modern genetics and genomics studies. There is a need to effectively and efficiently identify functionally important nsSNPs...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | The Scientific World Journal |
| Online Access: | http://dx.doi.org/10.1100/2012/738423 |
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| author | R. Magesh C. George Priya Doss |
| author_facet | R. Magesh C. George Priya Doss |
| author_sort | R. Magesh |
| collection | DOAJ |
| description | A major challenge in the analysis of human genetic variation is to distinguish functional from nonfunctional SNPs. Discovering these functional SNPs is one of the main goals of modern genetics and genomics studies. There is a need to effectively and efficiently identify functionally important nsSNPs which may be deleterious or disease causing and to identify their molecular effects. The prediction of phenotype of nsSNPs by computational analysis may provide a good way to explore the function of nsSNPs and its relationship with susceptibility to disease. In this context, we surveyed and compared variation databases along with in silico prediction programs to assess the effects of deleterious functional variants on protein functions. In other respects, we attempted these methods to work as first-pass filter to identify the deleterious substitutions worth pursuing for further experimental research. In this analysis, we used the existing computational methods to explore the mutation-structure-function relationship in HGD gene causing alkaptonuria. |
| format | Article |
| id | doaj-art-3d178b45a3f7484091dcae123882968e |
| institution | Kabale University |
| issn | 1537-744X |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | The Scientific World Journal |
| spelling | doaj-art-3d178b45a3f7484091dcae123882968e2025-02-03T05:43:39ZengWileyThe Scientific World Journal1537-744X2012-01-01201210.1100/2012/738423738423Computational Methods to Work as First-Pass Filter in Deleterious SNP Analysis of AlkaptonuriaR. Magesh0C. George Priya Doss1Department of Biotechnology, Faculty of Biomedical Sciences, Technology & Research, Sri Ramachandra University, Chennai 600116, IndiaCentre for Nanobiotechnology, Medical Biotechnology Division, School of Biosciences and Technology, VIT University, Tamil Nadu, Vellore 632014, IndiaA major challenge in the analysis of human genetic variation is to distinguish functional from nonfunctional SNPs. Discovering these functional SNPs is one of the main goals of modern genetics and genomics studies. There is a need to effectively and efficiently identify functionally important nsSNPs which may be deleterious or disease causing and to identify their molecular effects. The prediction of phenotype of nsSNPs by computational analysis may provide a good way to explore the function of nsSNPs and its relationship with susceptibility to disease. In this context, we surveyed and compared variation databases along with in silico prediction programs to assess the effects of deleterious functional variants on protein functions. In other respects, we attempted these methods to work as first-pass filter to identify the deleterious substitutions worth pursuing for further experimental research. In this analysis, we used the existing computational methods to explore the mutation-structure-function relationship in HGD gene causing alkaptonuria.http://dx.doi.org/10.1100/2012/738423 |
| spellingShingle | R. Magesh C. George Priya Doss Computational Methods to Work as First-Pass Filter in Deleterious SNP Analysis of Alkaptonuria The Scientific World Journal |
| title | Computational Methods to Work as First-Pass Filter in Deleterious SNP Analysis of Alkaptonuria |
| title_full | Computational Methods to Work as First-Pass Filter in Deleterious SNP Analysis of Alkaptonuria |
| title_fullStr | Computational Methods to Work as First-Pass Filter in Deleterious SNP Analysis of Alkaptonuria |
| title_full_unstemmed | Computational Methods to Work as First-Pass Filter in Deleterious SNP Analysis of Alkaptonuria |
| title_short | Computational Methods to Work as First-Pass Filter in Deleterious SNP Analysis of Alkaptonuria |
| title_sort | computational methods to work as first pass filter in deleterious snp analysis of alkaptonuria |
| url | http://dx.doi.org/10.1100/2012/738423 |
| work_keys_str_mv | AT rmagesh computationalmethodstoworkasfirstpassfilterindeleterioussnpanalysisofalkaptonuria AT cgeorgepriyadoss computationalmethodstoworkasfirstpassfilterindeleterioussnpanalysisofalkaptonuria |