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Systematic comparison of variant calling pipelines using gold standard personal exome variants
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scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
4671096
retrieved
13 August 2017
title
Systematic comparison of variant calling pipelines using gold standard personal exome variants
(English)
1 reference
stated in
Europe PubMed Central
PMCID
4671096
retrieved
13 August 2017
author
Eiru Kim
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
4671096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639839%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 June 2020
Edward Marcotte
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMCID
4671096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639839%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 June 2020
Insuk Lee
series ordinal
3
object named as
Insuk Lee
1 reference
stated in
Europe PubMed Central
PMCID
4671096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639839%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 June 2020
author name string
Sohyun Hwang
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
4671096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639839%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 June 2020
language of work or name
English
0 references
publication date
7 December 2015
1 reference
stated in
Europe PubMed Central
PMCID
4671096
retrieved
13 August 2017
published in
Scientific Reports
1 reference
stated in
Europe PubMed Central
PMCID
4671096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639839%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 June 2020
volume
5
1 reference
stated in
Europe PubMed Central
PMCID
4671096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639839%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 June 2020
page(s)
17875
1 reference
stated in
Europe PubMed Central
PMCID
4671096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639839%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 June 2020
copyright license
Creative Commons Attribution 4.0 International
start time
1 December 2015
1 reference
stated in
April 2022 Public Data File from Crossref
copyright status
copyrighted
0 references
exact match
https://scigraph.springernature.com/pub.10.1038/srep17875
0 references
cites work
A Comparison of Variant Calling Pipelines Using Genome in a Bottle as a Reference
1 reference
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PubMed Central
reference URL
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30 September 2017
The precision-recall plot is more informative than the ROC plot when evaluating binary classifiers on imbalanced datasets
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671096
retrieved
30 September 2017
An analytical framework for optimizing variant discovery from personal genomes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671096
retrieved
30 September 2017
BEDTools: The Swiss-Army Tool for Genome Feature Analysis.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671096
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30 September 2017
Validation and assessment of variant calling pipelines for next-generation sequencing
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671096
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30 September 2017
Next-generation sequencing for research and diagnostics in kidney disease
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30 September 2017
Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
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30 September 2017
The UCSC Genome Browser database: 2014 update
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30 September 2017
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671096
retrieved
30 September 2017
Comparing a few SNP calling algorithms using low-coverage sequencing data
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671096
retrieved
30 September 2017
An integrated map of genetic variation from 1,092 human genomes
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PubMed Central
reference URL
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retrieved
30 September 2017
Exome sequencing and complex disease: practical aspects of rare variant association studies
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671096
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30 September 2017
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
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30 September 2017
Fast gapped-read alignment with Bowtie 2
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30 September 2017
De novo assembly and genotyping of variants using colored de Bruijn graphs
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30 September 2017
The Sequence Read Archive: explosive growth of sequencing data.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671096
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30 September 2017
Exome sequencing as a tool for Mendelian disease gene discovery
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671096
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30 September 2017
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671096
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30 September 2017
Uncovering the roles of rare variants in common disease through whole-genome sequencing
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671096
retrieved
30 September 2017
Personal genomes in progress: from the human genome project to the personal genome project
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671096
retrieved
30 September 2017
The Sequence Alignment/Map format and SAMtools
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671096
retrieved
30 September 2017
The personal genome project
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671096
retrieved
30 September 2017
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671096
retrieved
29 June 2018
Identifiers
DOI
10.1038/SREP17875
1 reference
stated in
Europe PubMed Central
PMCID
4671096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639839%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 June 2020
Dimensions Publication ID
1019760953
0 references
PMCID
4671096
1 reference
stated in
Europe PubMed Central
PMCID
4671096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639839%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 June 2020
PubMed ID
26639839
1 reference
stated in
Europe PubMed Central
PMCID
4671096
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639839%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 June 2020
ResearchGate publication ID
286235009
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