Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. (Q34768428)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457909%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457909%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

2

1 reference

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27 January 2020

Abel Gonzalez-Perez

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457909%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author name string

Abel González-Pérez

series ordinal

1

1 reference

PubMed ID

21457909

4 August 2017

language of work or name

English

0 references

publication date

31 March 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457909%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 January 2020

published in

1 reference

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27 January 2020

volume

88

1 reference

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27 January 2020

page(s)

440-449

1 reference

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27 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457909%20AND%20SRC:MED&resulttype=core&format=json

A map of human genome variation from population-scale sequencing

27 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Massively parallel sequencing and rare disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

International network of cancer genome projects

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

A method and server for predicting damaging missense mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

TP53 mutations in human cancers: origins, consequences, and clinical use

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Exome sequencing identifies the cause of a mendelian disorder

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

ProPhylER: a curated online resource for protein function and structure based on evolutionary constraint analyses

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Recent advances in p53 research: an interdisciplinary perspective.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Determinants of protein function revealed by combinatorial entropy optimization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Genomix: a method for combining gene-finders' predictions, which uses evolutionary conservation of sequence and intron-exon structure

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Structure-function-rescue: the diverse nature of common p53 cancer mutants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Distinguishing cancer-associated missense mutations from common polymorphisms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

JIGSAW, GeneZilla, and GlimmerHMM: puzzling out the features of human genes in the ENCODE regions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

JIGSAW: integration of multiple sources of evidence for gene prediction

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Distribution and intensity of constraint in mammalian genomic sequence

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

ProbCons: Probabilistic consistency-based multiple sequence alignment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

SIFT: Predicting amino acid changes that affect protein function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Role of tumor suppressor p53 domains in selective binding to supercoiled DNA.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Predicting deleterious amino acid substitutions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

The IARC TP53 database: new online mutation analysis and recommendations to users

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071923

Large-scale analysis of non-synonymous coding region single nucleotide polymorphisms

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21457909

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/21457909

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.03.004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457909%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457909%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457909%20AND%20SRC:MED&resulttype=core&format=json