(Q33612884)

English

A comprehensive study of small non-frameshift insertions/deletions in proteins and prediction of their phenotypic effects by a machine learning method (KD4i).

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

A comprehensive study of small non-frameshift insertions/deletions in proteins and prediction of their phenotypic effects by a machine learning method (KD4i). (English)

1 reference

Europe PubMed Central

28 July 2017

machine learning

0 references

author name string

Carlos Bermejo-Das-Neves

1

1 reference

Europe PubMed Central

28 July 2017

Hoan-Ngoc Nguyen

2

1 reference

Europe PubMed Central

28 July 2017

Olivier Poch

3

1 reference

Europe PubMed Central

28 July 2017

Julie D Thompson

4

1 reference

Europe PubMed Central

28 July 2017

publication date

17 April 2014

1 reference

Europe PubMed Central

28 July 2017

BMC Bioinformatics

1 reference

Europe PubMed Central

28 July 2017

15

1 reference

Europe PubMed Central

28 July 2017

111

1 reference

Europe PubMed Central

28 July 2017

https://scigraph.springernature.com/pub.10.1186/1471-2105-15-111

0 references

SIFT Indel: predictions for the functional effects of amino acid insertions/deletions in proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

A survey of tools for variant analysis of next-generation genome sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

New and continuing developments at PROSITE.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

Predicting the functional effect of amino acid substitutions and indels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

Evolutionary diagnosis method for variants in personal exomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

KD4v: Comprehensible Knowledge Discovery System for Missense Variant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

MSV3d: database of human MisSense Variants mapped to 3D protein structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

Predicting the effects of frameshifting indels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

Human genome sequencing in health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

SPINE-D: accurate prediction of short and long disordered regions by a single neural-network based method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

The Pfam protein families database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

Personalized medicine: new genomics, old lessons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

Small insertions and deletions (INDELs) in human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

The UCSC Genome Browser database: update 2010

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

Next-generation DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

Genetic variation in an individual human exome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

The complete genome of an individual by massively parallel DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

UniProtKB/Swiss-Prot

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

Database resources of the National Center for Biotechnology Information

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

Predicting the effects of amino acid substitutions on protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

MACSIMS: multiple alignment of complete sequences information management system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

IUPred: web server for the prediction of intrinsically unstructured regions of proteins based on estimated energy content

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

Gene-environment interactions in human diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

dbSNP: the NCBI database of genetic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

A DNA polymorphism discovery resource for research on human genetic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

The classification of amino acid conservation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

Origins of structure in globular proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021375

14 July 2018

IMGT standardized criteria for statistical analysis of immunoglobulin V-REGION amino acid properties.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2105-15-111

21 January 2018

Real value prediction of solvent accessibility from amino acid sequence.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2105-15-111

21 January 2018

Dynamics of unfolded polypeptide chains as model for the earliest steps in protein folding.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2105-15-111

21 January 2018

The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution

1 reference

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30 October 2018

Relationship of sidechain hydrophobicity and alpha-helical propensity on the stability of the single-stranded amphipathic alpha-helix

1 reference

https://pubmed.ncbi.nlm.nih.gov/24742296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/24742296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence-based prediction of pathological mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/24742296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1000 Genomes project

1 reference

https://pubmed.ncbi.nlm.nih.gov/24742296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2105-15-111

1 reference

Europe PubMed Central

28 July 2017

DBLP publication ID

journals/bmcbi/Bermejo-Das-NevesNPT14

1 reference

DBLP Dataset 2021-01-02

28 January 2021

Dimensions Publication ID

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1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

ResearchGate publication ID

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