(Q34590503)

3 August 2017

title

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

1 reference

3 August 2017

Ephrem L H Chin

1

1 reference

3 August 2017

Cristina da Silva

series ordinal

2

1 reference

3 August 2017

Madhuri Hegde

series ordinal

3

1 reference

3 August 2017

language of work or name

1 reference

19 February 2013

1 reference

3 August 2017

1 reference

3 August 2017

volume

14

1 reference

3 August 2017

page(s)

6

1 reference

A high-throughput next-generation sequencing-based method for detecting the mutational fingerprint of carcinogens

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

Next generation sequencing to characterize mitochondrial genomic DNA heteroplasmy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

Performance comparison of exome DNA sequencing technologies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

An integrated semiconductor device enabling non-optical genome sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

Identification of factors required for meristem function in Arabidopsis using a novel next generation sequencing fast forward genetics approach

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

Next-generation sequencing: from basic research to diagnostics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

Real-time DNA sequencing from single polymerase molecules

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

The diploid genome sequence of an Asian individual

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

Accurate whole human genome sequencing using reversible terminator chemistry

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

The complete genome of an individual by massively parallel DNA sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

Sequence variability of a human pseudogene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

Initial sequencing and analysis of the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

"Sensitivity" and "specificity" reconsidered: the meaning of these terms in analytical and diagnostic settings

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

The human glucocerebrosidase gene and pseudogene: structure and evolution

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

DNA sequencing with chain-terminating inhibitors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599218

Impact of next generation sequencing: the 2009 Human Genome Variation Society Scientific Meeting.

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2156-14-6

Rapid whole-genome mutational profiling using next-generation sequencing technologies

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2156-14-6

Sequence Variability of a Human Pseudogene

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2156-14-6

Brain dystrophin, neurogenetics and mental retardation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23418865

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2156-14-6

1 reference

Dimensions Publication ID

3 August 2017

1048085822

0 references

Fatcat ID

release_bvzvxecjhnbfpo4hgbqgl6neyi

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bvzvxecjhnbfpo4hgbqgl6neyi

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

3599218

1 reference

3 August 2017

1 reference