Literature DB >> 19181721

Next generation tools for the annotation of human SNPs.

Rachel Karchin1.   

Abstract

Computational biology has the opportunity to play an important role in the identification of functional single nucleotide polymorphisms (SNPs) discovered in large-scale genotyping studies, ultimately yielding new drug targets and biomarkers. The medical genetics and molecular biology communities are increasingly turning to computational biology methods to prioritize interesting SNPs found in linkage and association studies. Many such methods are now available through web interfaces, but the interested user is confronted with an array of predictive results that are often in disagreement with each other. Many tools today produce results that are difficult to understand without bioinformatics expertise, are biased towards non-synonymous SNPs, and do not necessarily reflect up-to-date versions of their source bioinformatics resources, such as public SNP repositories. Here, I assess the utility of the current generation of webservers; and suggest improvements for the next generation of webservers to better deliver value to medical geneticists and molecular biologists.

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Mesh:

Year:  2009        PMID: 19181721      PMCID: PMC2638621          DOI: 10.1093/bib/bbn047

Source DB:  PubMed          Journal:  Brief Bioinform        ISSN: 1467-5463            Impact factor:   11.622


  87 in total

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10.  SNAP: predict effect of non-synonymous polymorphisms on function.

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  61 in total

Review 1.  Bioinformatics for personal genome interpretation.

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Review 5.  Lessons from postgenome-wide association studies: functional analysis of cancer predisposition loci.

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

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Review 10.  Analytical methods for inferring functional effects of single base pair substitutions in human cancers.

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