(Q34354991)

1 August 2017

Collective judgment predicts disease-associated single nucleotide variants (English)

1 reference

1 August 2017

3

Yana Bromberg

0 references

Emidio Capriotti

series ordinal

1

object named as

Emidio Capriotti

0 references

Russ Altman

series ordinal

2

object named as

Russ B Altman

1 reference

ORCID Public Data File 2021

1 August 2017

1 reference

language of work or name

English

0 references

publication date

28 May 2013

1 reference

1 August 2017

1 reference

1 August 2017

14 Suppl 3

1 reference

1 August 2017

S2

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2164-14-s3-s2

1 August 2017

0 references

cites work

Interpreting noncoding genetic variation in complex traits and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

Bioinformatics for personal genome interpretation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

SNPdbe: constructing an nsSNP functional impacts database

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

Improving the prediction of disease-related variants using protein three-dimensional 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=3839641

Bioinformatics challenges for personalized medicine

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

A map of human genome variation from population-scale sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

Automated inference of molecular mechanisms of disease from 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=3839641

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

McKusick's Online Mendelian Inheritance in Man (OMIM)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

SNAP: predict effect of non-synonymous polymorphisms on function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

UniRef: comprehensive and non-redundant UniProt reference clusters

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

SIFT: Predicting amino acid changes that affect protein function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

Human non-synonymous SNPs: server and survey

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

AL2CO: calculation of positional conservation in a protein sequence alignment.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

dbSNP: the NCBI database of genetic variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

The Protein Mutant Database

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

Human Gene Mutation Database (HGMD): 2003 update.

6 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-14-S3-S2

Genome-wide strategies for detecting multiple loci that influence complex diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-14-S3-S2

Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-14-S3-S2

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839641

Performance of mutation pathogenicity prediction methods on missense variants

27 October 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2164-14-S3-S2

Genetic risk prediction--are we there yet?

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23819846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2164-14-S3-S2

1 reference

PubMed ID

23819846

Dimensions Publication ID

1 August 2017

0 references

1 reference

1 August 2017

1 reference

PubMed ID

23819846