(Q42288039)

19 October 2017

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models (English)

1 reference

19 October 2017

3

1 reference

19 October 2017

8

1 reference

19 October 2017

2

Julian Gough

1 reference

19 October 2017

Hashem A Shihab

1

1 reference

19 October 2017

Peter D Stenson

4

1 reference

19 October 2017

Gary L A Barker

5

1 reference

19 October 2017

Keith J Edwards

6

1 reference

19 October 2017

Ian N M Day

7

1 reference

19 October 2017

2 November 2012

1 reference

19 October 2017

1 reference

19 October 2017

34

1 reference

19 October 2017

57-65

1 reference

19 October 2017

1

1 reference

PON-P: integrated predictor for pathogenicity of missense variants

19 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

The Pfam protein families database

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

A new disease-specific machine learning approach for the prediction of cancer-causing missense variants

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

SUPERFAMILY 1.75 including a domain-centric gene ontology method

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

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=3558800

DMDM: domain mapping of disease 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=3558800

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=3558800

A new generation of homology search tools based on probabilistic inference

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

In silico functional profiling of human disease-associated and polymorphic 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=3558800

The mammalian phenotype ontology: enabling robust annotation and comparative analysis

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

Automated inference of molecular mechanisms of disease from 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=3558800

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=3558800

The Human Gene Mutation Database: 2008 update

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary 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=3558800

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=3558800

UniRef: comprehensive and non-redundant UniProt reference clusters

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

The plant structure ontology, a unified vocabulary of anatomy and morphology of a flowering plant

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

Whole-plant growth stage ontology for angiosperms and its application in plant biology

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

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=3558800

Predicting the effects of amino acid substitutions 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=3558800

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

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=3558800

UniProt: the Universal Protein knowledgebase

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

Characterization of a cysteine protease from wheat Triticum aestivum (cv. Giza 164).

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

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=3558800

A comparison of profile hidden Markov model procedures for remote homology detection

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

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=3558800

Assignment of homology to genome sequences using a library of hidden Markov models that represent all proteins of known structure

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

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=3558800

Gene ontology: tool for the unification of biology

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

Pfam: a comprehensive database of protein domain families based on seed alignments

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

Dirichlet mixtures: a method for improved detection of weak but significant protein sequence homology

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

Hidden Markov models in computational biology. Applications to protein modeling

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

Basic local alignment search tool

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

The role of casein kinase II in flowering time regulation has diversified during evolution

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558800

HMM-based databases in InterPro

17 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22225

On Information and Sufficiency

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22225

Performance of mutation pathogenicity prediction methods on missense variants

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22225

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23033316

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sequence-based prediction of pathological mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23033316

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22225

1 reference

19 October 2017

1 reference

19 October 2017

1 reference