Ranking non-synonymous single nucleotide polymorphisms based on disease concepts (Q34427162)

2 August 2017

Ranking non-synonymous single nucleotide polymorphisms based on disease concepts (English)

1 reference

single-nucleotide polymorphism

2 August 2017

1 reference

4

1 reference

2 August 2017

Tom R Gaunt

6

0 references

Julian Gough

series ordinal

2

object named as

Julian Gough

1 reference

2 August 2017

3

Matthew Mort

1 reference

2 August 2017

Hashem A Shihab

1

1 reference

PubMed ID

24980617

2 August 2017

Ian N M Day

series ordinal

5

1 reference

2 August 2017

30 June 2014

1 reference

2 August 2017

1 reference

2 August 2017

8

1 reference

2 August 2017

11

1 reference

https://scigraph.springernature.com/pub.10.1186/1479-7364-8-11

2 August 2017

0 references

cites work

Predicting the functional consequences of cancer-associated amino acid substitutions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

Improving the prediction of the functional impact of cancer mutations by baseline tolerance transformation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

VariBench: a benchmark database for variations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

Exome sequencing as a tool for Mendelian disease gene discovery

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

A method and server for predicting damaging missense mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

A new generation of homology search tools based on probabilistic inference

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

In silico functional profiling of human disease-associated and polymorphic amino acid substitutions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

CanPredict: a computational tool for predicting cancer-associated missense mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

Distinguishing cancer-associated missense mutations from common polymorphisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

ROCR: visualizing classifier performance in R

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

UniProt: the Universal Protein knowledgebase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

Predicting deleterious amino acid substitutions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

Gene ontology: tool for the unification of biology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

Guidelines for reporting and using prediction tools for genetic variation analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

The Human Gene Mutation Database: 2008 update

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083756

Performance of mutation pathogenicity prediction methods on missense variants

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24980617

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Classification of mismatch repair gene missense variants with PON-MMR

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24980617

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The Unified Medical Language System

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24980617

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1479-7364-8-11

1 reference

PubMed ID

24980617

Dimensions Publication ID

2 August 2017

0 references

1 reference

2 August 2017

1 reference

PubMed ID

24980617