Next-generation sequencing: ready for the clinics? (Q37989166)

26 August 2017

Next-generation sequencing: ready for the clinics? (English)

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26 August 2017

A N Desai

1

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PubMed ID

22375550

26 August 2017

A Jere

series ordinal

2

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PubMed ID

22375550

26 August 2017

language of work or name

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9 April 2012

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26 August 2017

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26 August 2017

81

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26 August 2017

503-510

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26 August 2017

6

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Initial sequencing and analysis of the human genome

26 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

The Sequence of the Human Genome

21 January 2018

1 reference

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Carrier testing for severe childhood recessive diseases by next-generation sequencing

21 January 2018

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Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

21 January 2018

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Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient

21 January 2018

1 reference

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

21 January 2018

1 reference

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Sequencing technologies - the next generation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Next-generation DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

De novo genome sequence assembly of a filamentous fungus using Sanger, 454 and Illumina sequence data

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

De novo assembly of chickpea transcriptome using short reads for gene discovery and marker identification

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Characterization and improvement of RNA-Seq precision in quantitative transcript expression profiling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Massive-scale RNA-Seq analysis of non ribosomal transcriptome in human trisomy 21.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Whole methylome analysis by ultra-deep sequencing using two-base encoding

21 January 2018

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Broad surveys of DNA viral diversity obtained through viral metagenomics of mosquitoes

21 January 2018

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Use of whole-genome sequencing to diagnose a cryptic fusion oncogene

21 January 2018

1 reference

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Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.

21 January 2018

1 reference

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Prospective genomic characterization of the German enterohemorrhagic Escherichia coli O104:H4 outbreak by rapid next generation sequencing technology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

The effect of sequencing errors on metagenomic gene prediction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Improved base calling for the Illumina Genome Analyzer using machine learning strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

ABySS: a parallel assembler for short read sequence data

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Sequence-specific error profile of Illumina sequencers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Accurate whole human genome sequencing using reversible terminator chemistry

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Targeted high throughput sequencing in clinical cancer settings: formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Field guide to next-generation DNA sequencers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Accuracy and quality assessment of 454 GS-FLX Titanium pyrosequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

An integrated semiconductor device enabling non-optical genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Real-time DNA sequencing from single polymerase molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients

21 January 2018

1 reference

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Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

21 January 2018

1 reference

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Integrated cytogenetic and high-resolution array CGH analysis of genomic alterations associated with MYCN amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Massively parallel exon capture and library-free resequencing across 16 genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Detection of novel amplicons in prostate cancer by comprehensive genomic profiling of prostate cancer cell lines using oligonucleotide-based arrayCGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Regional genomic instability predisposes to complex dystrophin gene rearrangements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Genomewide association scan of suicidal thoughts and behaviour in major depression

21 January 2018

1 reference

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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Critical review of microarray-based prognostic tests and trials in breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Prioritizing GWAS results: A review of statistical methods and recommendations for their application

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Future medical applications of single-cell sequencing in cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

A genome-wide investigation of SNPs and CNVs in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Transcriptional consequences of genomic structural aberrations in breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Cohen syndrome diagnosis using whole genome arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Evaluation of a transposase protocol for rapid generation of shotgun high-throughput sequencing libraries from nanogram quantities of DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Preparation of high-quality next-generation sequencing libraries from picogram quantities of target DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

High-quality draft assemblies of mammalian genomes from massively parallel sequence data

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Full-length transcriptome assembly from RNA-Seq data without a reference genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Predicting the effects of frameshifting indels

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Analysis and design of RNA sequencing experiments for identifying isoform regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

TopHat-Fusion: an algorithm for discovery of novel fusion transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

The case for cloud computing in genome informatics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

The real cost of sequencing: higher than you think!

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Personal genome research : what should the participant be told?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01865.X

10.1111/J.1399-0004.2012.01865.X

21 January 2018

Identifiers

DOI

1 reference

26 August 2017

1 reference

PubMed ID

22375550