(Q30360180)

http://europepmc.org/abstract/PMC/6283364

1 July 2019

title

Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins. (English)

1 reference

http://europepmc.org/abstract/PMC/6283364

1 July 2019

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24626529%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Michael Yourshaw

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24626529%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

5

Stanley F Nelson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24626529%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

S Paige Taylor

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24626529%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Martín G Martín

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24626529%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

publication date

12 March 2014

1 reference

http://europepmc.org/abstract/PMC/6283364

1 July 2019

published in

Briefings in Bioinformatics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24626529%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24626529%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24626529%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

page(s)

255-264

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24626529%20AND%20SRC:MED&resulttype=core&format=json

Human genome sequencing in health and disease

10 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

Next-generation DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

The variant call format and VCFtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

In-depth annotation of SNPs arising from resequencing projects using NGS-SNP

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

Towards a knowledge-based Human Protein Atlas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

The KEGG databases at GenomeNet

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

The Mouse Genome Database (MGD): comprehensive resource for genetics and genomics of the laboratory mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

Update on activities at the Universal Protein Resource (UniProt) in 2013

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

ZFIN, the Zebrafish Model Organism Database: increased support for mutants and transgenics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

The Rat Genome Database 2013--data, tools and users

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

Rare Genomic Variants Link Bipolar Disorder with Anxiety Disorders to CREB-Regulated Intracellular Signaling Pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBIB%2FBBU008

Rethinking clinical practice: clinical implementation of exome sequencing

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24626529

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BIB/BBU008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24626529%20AND%20SRC:MED&resulttype=core&format=json

journals/bib/YourshawTRMN15

10 June 2020

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24626529%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference