(Q50855218)

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Predicting the functional consequences of non-synonymous DNA sequence variants--evaluation of bioinformatics tools and development of a consensus strategy.

scientific article published on 3 July 2013

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Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23831115

Predicting the functional consequences of non-synonymous DNA sequence variants--evaluation of bioinformatics tools and development of a consensus strategy. (English)

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Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23831115

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inferred from title

Michael Simpson

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Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23831115

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Thomas Schlitt

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Kimon Frousios

1

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24 March 2018

http://europepmc.org/abstract/MED/23831115

Costas S Iliopoulos

2

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http://europepmc.org/abstract/MED/23831115

publication date

3 July 2013

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24 March 2018

http://europepmc.org/abstract/MED/23831115

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Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23831115

102

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24 March 2018

http://europepmc.org/abstract/MED/23831115

4

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24 March 2018

http://europepmc.org/abstract/MED/23831115

223-228

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Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23831115

SIFT: Predicting amino acid changes that affect protein function

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A method and server for predicting damaging missense mutations

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Automated inference of molecular mechanisms of disease from amino acid substitutions.

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Functional annotations improve the predictive score of human disease-related mutations in proteins

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Applications for protein sequence-function evolution data: mRNA/protein expression analysis and coding SNP scoring tools

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Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information

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Predicting the functional impact of protein mutations: application to cancer genomics

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nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms

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A combined functional annotation score for non-synonymous variants

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Statistical geometry based prediction of nonsynonymous SNP functional effects using random forest and neuro-fuzzy classifiers

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SNAP: predict effect of non-synonymous polymorphisms on function

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Improving the prediction of disease-related variants using protein three-dimensional structure

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SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.

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7 January 2021

PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes

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7 January 2021

MutDB services: interactive structural analysis of mutation data

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7 January 2021

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

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Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

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TAMAL: an integrated approach to choosing SNPs for genetic studies of human complex traits

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7 January 2021

FESD: a Functional Element SNPs Database in human

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LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources.

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7 January 2021

F-SNP: computationally predicted functional SNPs for disease association studies

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7 January 2021

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

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7 January 2021

SNPeffect v2.0: a new step in investigating the molecular phenotypic effects of human non-synonymous SNPs.

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7 January 2021

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

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7 January 2021

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization.

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SNPs3D: candidate gene and SNP selection for association studies.

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Next generation tools for the annotation of human SNPs

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Lost in the space of bioinformatic tools: a constantly updated survival guide for genetic epidemiology. The GenEpi Toolbox

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Using bioinformatics to predict the functional impact of SNVs

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7 January 2021

Performance of mutation pathogenicity prediction methods on missense variants

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Ongoing and future developments at the Universal Protein Resource

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7 January 2021

The Human Gene Mutation Database: 2008 update

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7 January 2021

A map of human genome variation from population-scale sequencing

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Assessing the accuracy of prediction algorithms for classification: an overview

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The UCSC Genome Browser database: update 2011

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NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

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PhenCode: connecting ENCODE data with mutations and phenotype

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7 January 2021

Identifiers

10.1016/J.YGENO.2013.06.005

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23831115

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23831115

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