(Q42718507)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

5

Stanley F Nelson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

Hane Lee

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Kingshuk Das

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Eric Vilain

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Wayne W Grody

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Joshua L Deignan

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

language of work or name

English

0 references

publication date

9 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

page(s)

510-515

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/gim.2013.183

4 March 2020

exact match

0 references

cites work

Validation of next generation sequencing technologies in comparison to current diagnostic gold standards for BRAF, EGFR and KRAS mutational analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

ACMG clinical laboratory standards for next-generation sequencing

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

Rare variant detection using family-based sequencing analysis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

Exome sequencing and the genetic basis of complex traits

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

A framework for variation discovery and genotyping using next-generation DNA sequencing data

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

Integrative genomics viewer

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

A map of human genome variation from population-scale sequencing

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

A survey of sequence alignment algorithms for next-generation sequencing

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

Exome sequencing identifies the cause of a mendelian disorder

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

Targeted capture and massively parallel sequencing of 12 human exomes

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

The Sequence Alignment/Map format and SAMtools

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

Quality scores and SNP detection in sequencing-by-synthesis systems

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

Primer3Plus, an enhanced web interface to Primer3

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

Adjust quality scores from alignment and improve sequencing accuracy

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079763

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

16 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2013.183

21 January 2018

Identifiers

DOI

10.1038/GIM.2013.183

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

4 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24406459%20AND%20SRC:MED&resulttype=core&format=json