A combined functional annotation score for non-synonymous variants (Q42227205)

19 October 2017

A combined functional annotation score for non-synonymous variants (English)

1 reference

19 October 2017

5

1 reference

19 October 2017

6

1 reference

19 October 2017

7

1 reference

19 October 2017

Margarida C Lopes

1

1 reference

19 October 2017

Chris Joyce

series ordinal

2

1 reference

19 October 2017

Graham R S Ritchie

series ordinal

3

1 reference

19 October 2017

Sally L John

series ordinal

4

1 reference

19 October 2017

18 January 2012

1 reference

19 October 2017

1 reference

19 October 2017

73

1 reference

19 October 2017

1

1 reference

19 October 2017

47-51

1 reference

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

19 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

A map of human genome variation from population-scale sequencing

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

A database and API for variation, dense genotyping and resequencing data

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

A method and server for predicting damaging missense mutations

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

Exhaustive prediction of disease susceptibility to coding base changes in the human genome

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

Prediction by graph theoretic measures of structural effects in proteins arising from non-synonymous single nucleotide polymorphisms

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

Predicting the phenotypic effects of non-synonymous single nucleotide polymorphisms based on support vector machines

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

SNAP: predict effect of non-synonymous polymorphisms on function

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

Predicting deleterious nsSNPs: an analysis of sequence and structural attributes

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

Loss of protein structure stability as a major causative factor in monogenic disease.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

ROCR: visualizing classifier performance in R

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

Distribution and intensity of constraint in mammalian genomic sequence

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

A comparative study of machine-learning methods to predict the effects of single nucleotide polymorphisms on protein function.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

PANTHER: a library of protein families and subfamilies indexed by function

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

SIFT: Predicting amino acid changes that affect protein function

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

Human non-synonymous SNPs: server and survey

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

Accounting for human polymorphisms predicted to affect protein function

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

Predicting deleterious amino acid substitutions

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

SNPs, protein structure, and disease.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

Prediction of deleterious human alleles

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

dbSNP: the NCBI database of genetic variation

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

A structural bioinformatics approach to the analysis of nonsynonymous single nucleotide polymorphisms (nsSNPs) and their relation to disease.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

Identification and analysis of deleterious human SNPs.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

Human Gene Mutation Database (HGMD): 2003 update.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

PSIC: profile extraction from sequence alignments with position-specific counts of independent observations.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390741

Sequence-based prediction of pathological mutations

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22261837

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Use of bioinformatics tools for the annotation of disease-associated mutations in animal models

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22261837

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1159/000334984

1 reference

19 October 2017

1 reference

19 October 2017

1 reference