(Q39788012)

English

Multilevel biological characterization of exomic variants at the protein level significantly improves the identification of their deleterious effects

scientific article published on 18 February 2016

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scholarly article

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Europe PubMed Central

PubMed publication ID

14 September 2017

Multilevel biological characterization of exomic variants at the protein level significantly improves the identification of their deleterious effects (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 September 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27153718%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27153718%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

author name string

Daniele Raimondi

1

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27153718%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Andrea M Gazzo

2

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27153718%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Marianne Rooman

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27153718%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

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publication date

18 February 2016

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Europe PubMed Central

PubMed publication ID

14 September 2017

number of pages

8

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inferred from page(s)

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Europe PubMed Central

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5 June 2020

32

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5 June 2020

12

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Europe PubMed Central

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5 June 2020

1797-1804

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27153718%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Exome sequencing as a tool for Mendelian disease gene discovery

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Identifying Important Risk Factors for Survival in Kidney Graft Failure Patients Using Random Survival Forests

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Distribution and intensity of constraint in mammalian genomic sequence

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0.

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Accelerated Profile HMM Searches

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Better prediction of functional effects for sequence variants

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

ConsensusPathDB: toward a more complete picture of cell biology

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

A general framework for estimating the relative pathogenicity of human genetic variants

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

A systematic survey of loss-of-function variants in human protein-coding genes

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

An initial map of insertion and deletion (INDEL) variation in the human genome.

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Natural genetic variation caused by small insertions and deletions in the human genome

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Computational tools for prioritizing candidate genes: boosting disease gene discovery

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Predicting deleterious amino acid substitutions

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Genetic variation in an individual human exome

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Structural diversity of domain superfamilies in the CATH database

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Using structural bioinformatics to investigate the impact of non synonymous SNPs and disease mutations: scope and limitations

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Improved exome prioritization of disease genes through cross-species phenotype comparison

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Widespread macromolecular interaction perturbations in human genetic disorders

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

dbSNP: the NCBI database of genetic variation

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

eXtasy: variant prioritization by genomic data fusion.

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Human Gene Mutation Database (HGMD): 2003 update

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Residue mutations and their impact on protein structure and function: detecting beneficial and pathogenic changes

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Insight into neutral and disease-associated human genetic variants through interpretable predictors

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

The effects of non-synonymous single nucleotide polymorphisms (nsSNPs) on protein-protein interactions.

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

EFIN: predicting the functional impact of nonsynonymous single nucleotide polymorphisms in human genome

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTW094

21 January 2018

Identifiers

10.1093/BIOINFORMATICS/BTW094

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27153718%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

DBLP publication ID

journals/bioinformatics/RaimondiGRLV16

1 reference

DBLP Dataset 2021-01-02

28 January 2021

release_3ts5ukop75hdbbmvtyea27y4nu

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27153718%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

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