(Q30401706)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480434%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480434%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480434%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

4

Marek Kimmel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480434%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

author name string

David A Wheeler

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480434%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Sharon E Plon

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480434%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

publication date

7 April 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480434%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480434%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480434%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

page(s)

661-668

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480434%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480434%20AND%20SRC:MED&resulttype=core&format=json

Human allelic variation: perspective from protein function, structure, and evolution

28 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=4154965

A method and server for predicting damaging missense mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Small-sample precision of ROC-related estimates.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Identification of deleterious mutations within three human genomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Next generation tools for the annotation of human SNPs

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

In silico analysis of missense substitutions using sequence-alignment based methods

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Determinants of protein function revealed by combinatorial entropy optimization

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Predicting the effects of amino acid substitutions on protein function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

ROCR: visualizing classifier performance in R

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Human non-synonymous SNPs: server and survey

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Accounting for human polymorphisms predicted to affect protein function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Predicting deleterious amino acid substitutions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Prediction of deleterious human alleles

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

The breast cancer information core: database design, structure, and scope

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Information content of binding sites on nucleotide sequences

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154965

Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information.

20 June 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21490

Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21490

An introduction to ROC analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21490

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21490

Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21490

21 January 2018

Identifiers

DOI

10.1002/HUMU.21490

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480434%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480434%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference