(Q40599031)

21 September 2017

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting (English)

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21 September 2017

10

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11

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6

Shazia Mahamdallie

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21 September 2017

9

Ann Strydom

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21 September 2017

2

Elise Ruark

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21 September 2017

3

Anthony Renwick

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21 September 2017

Márton Münz

1

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21 September 2017

Emma Ramsay

4

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21 September 2017

Matthew Clarke

5

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21 September 2017

Victoria Cloke

7

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21 September 2017

Sheila Seal

8

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21 September 2017

language of work or name

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28 July 2015

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21 September 2017

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21 September 2017

7

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21 September 2017

76

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https://scigraph.springernature.com/pub.10.1186/s13073-015-0195-6

21 September 2017

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cites work

Mainstreaming genetic testing of cancer predisposition genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4551696

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4551696

Realizing the promise of cancer predisposition genes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4551696

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4551696

The variant call format and VCFtools

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4551696

Charting a course for genomic medicine from base pairs to bedside

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4551696

Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4551696

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4551696

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4551696

The Sequence Alignment/Map format and SAMtools

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4551696

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4551696

The Sequence Ontology: a tool for the unification of genome annotations

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4551696

Finishing the euchromatic sequence of the human genome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4551696

dbSNP: the NCBI database of genetic variation

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4551696

Nomenclature for the description of human sequence variations.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4551696

10.1186/S13073-015-0195-6

20 August 2018

Identifiers

DOI

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Dimensions Publication ID

21 September 2017

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21 September 2017

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