(Q34526801)

2 August 2017

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title

Coming of age: ten years of next-generation sequencing technologies (English)

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2 August 2017

John D McPherson

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Sara Goodwin

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2 August 2017

W Richard McCombie

series ordinal

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2 August 2017

publication date

1 May 2016

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2 August 2017

published in

Nature Reviews Genetics

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2 August 2017

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2 August 2017

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2 August 2017

page(s)

333-351

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

2 August 2017

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Next-generation sequencing platforms

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

High-throughput DNA sequencing--concepts and limitations

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Accurate multiplex polony sequencing of an evolved bacterial genome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Polony multiplex analysis of gene expression (PMAGE) in mouse hypertrophic cardiomyopathy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

A massively parallel PicoTiterPlate™ based platform for discrete picoliter‐scale polymerase chain reactions

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

BTA, a novel reagent for DNA attachment on glass and efficient generation of solid-phase amplified DNA colonies.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Single-molecule DNA sequencing of a viral genome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

DNA ligases: structure, reaction mechanism, and function

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

A Ligase-Mediated Gene Detection Technique

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

A high-resolution, nucleosome position map of C. elegans reveals a lack of universal sequence-dictated positioning

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Sequencing technologies - the next generation

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Four-color DNA sequencing by synthesis using cleavable fluorescent nucleotide reversible terminators

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Four-color DNA sequencing with 3'-O-modified nucleotide reversible terminators and chemically cleavable fluorescent dideoxynucleotides

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Genome sequencing in microfabricated high-density picolitre reactors

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

An integrated semiconductor device enabling non-optical genome sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Coverage bias and sensitivity of variant calling for four whole-genome sequencing technologies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Technology-specific error signatures in the 1000 Genomes Project data

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Comparing platforms for C. elegans mutant identification using high-throughput whole-genome sequencing

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Estimating genotype error rates from high-coverage next-generation sequence data

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Evaluation of next generation sequencing platforms for population targeted sequencing studies

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Accurate whole human genome sequencing using reversible terminator chemistry

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

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

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Sequence-specific error profile of Illumina sequencers

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and genome analyzer systems

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Caenorhabditis elegans mutant allele identification by whole-genome sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

ChIP-seq: advantages and challenges of a maturing technology

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Transposition of native chromatin for fast and sensitive epigenomic profiling of open chromatin, DNA-binding proteins and nucleosome position

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Distinct DNA methylation patterns characterize differentiated human embryonic stem cells and developing human fetal liver

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

RNA-Seq: a revolutionary tool for transcriptomics

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

A trimming-and-retrieving alignment scheme for reduced representation bisulfite sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Performance comparison of benchtop high-throughput sequencing platforms

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Ion Torrent next-generation sequencing for routine identification of clinically relevant mutations in colorectal cancer patients.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Multi-platform assessment of transcriptome profiling using RNA-seq in the ABRF next-generation sequencing study.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Copy-number variation and association studies of human disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Expandable DNA repeats and human disease.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Structural variation in the human genome and its role in disease

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Real-time DNA sequencing from single polymerase molecules

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Zero-Mode Waveguides for Single-Molecule Analysis at High Concentrations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Continuous base identification for single-molecule nanopore DNA sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

The genome sequence of the colonial chordate, Botryllus schlosseri

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Illumina TruSeq synthetic long-reads empower de novo assembly and resolve complex, highly-repetitive transposable elements

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Assembly of large genomes using second-generation sequencing

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Assessing structural variation in a personal genome-towards a human reference diploid genome.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Pacific biosciences sequencing technology for genotyping and variation discovery in human data

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

Hybrid error correction and de novo assembly of single-molecule sequencing reads

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

The utility of PacBio circular consensus sequencing for characterizing complex gene families in non-model organisms

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Oxford Nanopore sequencing, hybrid error correction, and de novo assembly of a eukaryotic genome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Improved data analysis for the MinION nanopore sequencer

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Uncovering the roles of rare variants in common disease through whole-genome sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Whole-genome analysis informs breast cancer response to aromatase inhibition

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Mammary development meets cancer genomics

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

A map of human genome variation from population-scale sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

A global reference for human genetic variation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

An integrated map of structural variation in 2,504 human genomes

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

The UK10K project identifies rare variants in health and disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Large-scale whole-genome sequencing of the Icelandic population

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Genome-wide in situ exon capture for selective resequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

The contribution of de novo coding mutations to autism spectrum disorder

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.49

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Optimizing cancer genome sequencing and analysis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Towards an understanding of DNA recognition by the methyl-CpG binding domain 1.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

High-resolution genome-wide cytosine methylation profiling with simultaneous copy number analysis and optimization for limited cell numbers.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Comprehensive high-throughput arrays for relative methylation (CHARM).

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Reduced representation bisulfite sequencing for comparative high-resolution DNA methylation analysis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Direct detection of DNA methylation during single-molecule, real-time sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Nanopores discriminate among five C5-cytosine variants in DNA

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

An assessment of the sequence gaps: unfinished business in a finished human genome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Genetic variation and the de novo assembly of human genomes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Resolving the complexity of the human genome using single-molecule sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Characterization of structural variants with single molecule and hybrid sequencing approaches

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Haplotype-resolved genome sequencing: experimental methods and applications

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Whole-genome haplotyping using long reads and statistical methods

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Reconstructing lineage hierarchies of the distal lung epithelium using single-cell RNA-seq

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

A single-molecule long-read survey of the human transcriptome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Rapid draft sequencing and real-time nanopore sequencing in a hospital outbreak of Salmonella

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Real-time, portable genome sequencing for Ebola surveillance

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

The DNA Data Deluge: Fast, efficient genome sequencing machines are spewing out more data than geneticists can analyze

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Bioinformatics challenges of new sequencing technology

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Inferring causality and functional significance of human coding DNA variants

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Assuring the quality of next-generation sequencing in clinical laboratory practice

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Whole genome sequencing as a diagnostic test: challenges and opportunities

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Point-counterpoint. Ethics and genomic incidental findings

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Virtual terminator nucleotides for next-generation DNA sequencing.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

A novel low energy electron microscope for DNA sequencing and surface analysis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Array feature size influences nucleic acid surface capture in DNA microarrays

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Use of a cDNA microarray to analyse gene expression patterns in human cancer

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Genomic-scale gene expression profiling of normal and malignant immune cells

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Large-scale meta-analysis of cancer microarray data identifies common transcriptional profiles of neoplastic transformation and progression

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Nucleic acid amplification strategies for DNA microarray-based pathogen detection

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Sequence-specific identification of 18 pathogenic microorganisms using microarray technology.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Concordance Study of 3 Direct-to-Consumer Genetic-Testing Services

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Personalized investigation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Methods and strategies for analyzing copy number variation using DNA microarrays

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Structural variation of chromosomes in autism spectrum disorder

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

ChIP-chip: considerations for the design, analysis, and application of genome-wide chromatin immunoprecipitation experiments

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Comparison of RNA-Seq and microarray in transcriptome profiling of activated T cells

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Detection of specific polymerase chain reaction product by utilizing the 5'----3' exonuclease activity of Thermus aquaticus DNA polymerase

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Twenty-five years of quantitative PCR for gene expression analysis.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Taking qPCR to a higher level: Analysis of CNV reveals the power of high throughput qPCR to enhance quantitative resolution

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Clinical utility of droplet digital PCR for human cytomegalovirus

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Analytical validation of the PAM50-based Prosigna Breast Cancer Prognostic Gene Signature Assay and nCounter Analysis System using formalin-fixed paraffin-embedded breast tumor specimens

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

High-throughput profiling identifies clinically actionable mutations in salivary duct carcinoma

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Multiplexed gene expression and fusion transcript analysis to detect ALK fusions in lung cancer

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Ordered restriction maps of Saccharomyces cerevisiae chromosomes constructed by optical mapping

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Rapid genome mapping in nanochannel arrays for highly complete and accurate de novo sequence assembly of the complex Aegilops tauschii genome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Rapid detection of structural variation in a human genome using nanochannel-based genome mapping technology

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Assembly and diploid architecture of an individual human genome via single-molecule technologies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

MinION Analysis and Reference Consortium: Phase 1 data release and analysis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Field guide to next‐generation DNA sequencers

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.49

Cloning and screening of sequences expressed in a mouse colon tumor.

31 March 2020

1 reference

12 December 2020

Sequencing of the Dutch elm disease fungus genome using the Roche/454 GS-FLX Titanium System in a comparison of multiple genomics core facilities

1 reference

12 December 2020

The impact of next-generation sequencing technology on genetics

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12 December 2020

Comparison of next-generation sequencing systems

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12 December 2020

Identifiers

DOI

10.1038/NRG.2016.49

1 reference

Dimensions Publication ID

2 August 2017

1033123702

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1 reference