VaRank: a simple and powerful tool for ranking genetic variants (Q35174096)

6 August 2017

title

VaRank: a simple and powerful tool for ranking genetic variants (English)

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6 August 2017

Cécile Pizot

2

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Amélie Piton

object named as

Amélie Piton

4

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Jean Muller

object named as

Jean Muller

9

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author name string

Véronique Geoffroy

1

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6 August 2017

Claire Redin

3

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6 August 2017

Nasim Vasli

5

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6 August 2017

Corinne Stoetzel

6

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6 August 2017

André Blavier

7

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6 August 2017

Jocelyn Laporte

8

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6 August 2017

publication date

3 March 2015

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6 August 2017

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6 August 2017

volume

3

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6 August 2017

page(s)

e796

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In silico prediction of splice-altering single nucleotide variants in the human genome

6 August 2017

cites work

1 reference

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Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing

28 July 2018

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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

28 July 2018

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Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

28 July 2018

1 reference

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Choice of transcripts and software has a large effect on variant annotation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

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

28 July 2018

1 reference

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IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

28 July 2018

1 reference

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eXtasy: variant prioritization by genomic data fusion.

28 July 2018

1 reference

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Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

28 July 2018

1 reference

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Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

28 July 2018

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Genetic basis of intellectual disability

28 July 2018

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

28 July 2018

1 reference

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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

28 July 2018

1 reference

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KD4v: Comprehensible Knowledge Discovery System for Missense Variant

28 July 2018

1 reference

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Next generation sequencing for molecular diagnosis of neuromuscular diseases.

28 July 2018

1 reference

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Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

28 July 2018

1 reference

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Predicting the effects of frameshifting indels

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

The variant call format and VCFtools

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

Field guide to next-generation DNA sequencers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

A method and server for predicting damaging missense mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

Exome sequencing identifies the cause of a mendelian disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

Finding the missing heritability of complex diseases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

Targeted capture and massively parallel sequencing of 12 human exomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

Role of 5'- and 3'-untranslated regions of mRNAs in human diseases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

dbSNP: the NCBI database of genetic variation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

Improved splice site detection in Genie

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

SNPdryad: predicting deleterious non-synonymous human SNPs using only orthologous protein sequences

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

Describing structural changes by extending HGVS sequence variation nomenclature.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

Uncovering the roles of rare variants in common disease through whole-genome sequencing

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4358652

27 September 2018

Identifiers

DOI

10.7717/PEERJ.796

1 reference

6 August 2017

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6 August 2017

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