标题
Reference standards for next-generation sequencing
作者
关键词
-
出版物
NATURE REVIEWS GENETICS
Volume 18, Issue 8, Pages 473-484
出版商
Springer Nature
发表日期
2017-06-19
DOI
10.1038/nrg.2017.44
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- In Silico Proficiency Testing for Clinical Next-Generation Sequencing
- (2017) Eric J. Duncavage et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Power analysis of single-cell RNA-sequencing experiments
- (2017) Valentine Svensson et al. NATURE METHODS
- Salmon provides fast and bias-aware quantification of transcript expression
- (2017) Rob Patro et al. NATURE METHODS
- DNA damage is a pervasive cause of sequencing errors, directly confounding variant identification
- (2017) Lixin Chen et al. SCIENCE
- A Model Study of In Silico Proficiency Testing for Clinical Next-Generation Sequencing
- (2016) Eric J. Duncavage et al. ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
- svclassify: a method to establish benchmark structural variant calls
- (2016) Hemang Parikh et al. BMC GENOMICS
- Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants
- (2016) T. F. Beck et al. CLINICAL CHEMISTRY
- A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree
- (2016) Michael A. Eberle et al. GENOME RESEARCH
- High-resolution phylogenetic microbial community profiling
- (2016) Esther Singer et al. ISME Journal
- Assuring the Quality of Next-Generation Sequencing in Clinical Microbiology and Public Health Laboratories
- (2016) Amy S. Gargis et al. JOURNAL OF CLINICAL MICROBIOLOGY
- Plasmid-Based Materials as Multiplex Quality Controls and Calibrators for Clinical Next-Generation Sequencing Assays
- (2016) David J. Sims et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing
- (2016) Emily M. Kudalkar et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Multi-Institutional FASTQ File Exchange as a Means of Proficiency Testing for Next-Generation Sequencing Bioinformatics and Variant Interpretation
- (2016) Kurtis D. Davies et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes
- (2016) Victoria M. Pratt et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing
- (2016) Wenbo Mu et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- De novo assembly and phasing of a Korean human genome
- (2016) Jeong-Sun Seo et al. NATURE
- Haplotyping germline and cancer genomes with high-throughput linked-read sequencing
- (2016) Grace X Y Zheng et al. NATURE BIOTECHNOLOGY
- Near-optimal probabilistic RNA-seq quantification
- (2016) Nicolas L Bray et al. NATURE BIOTECHNOLOGY
- Representing genetic variation with synthetic DNA standards
- (2016) Ira W Deveson et al. NATURE METHODS
- Spliced synthetic genes as internal controls in RNA sequencing experiments
- (2016) Simon A Hardwick et al. NATURE METHODS
- Classification evaluation
- (2016) Jake Lever et al. NATURE METHODS
- A comparison of tools for the simulation of genomic next-generation sequencing data
- (2016) Merly Escalona et al. NATURE REVIEWS GENETICS
- Translating RNA sequencing into clinical diagnostics: opportunities and challenges
- (2016) Sara A. Byron et al. NATURE REVIEWS GENETICS
- Deep sequencing of 10,000 human genomes
- (2016) Amalio Telenti et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A research roadmap for next-generation sequencing informatics
- (2016) Russ B. Altman et al. Science Translational Medicine
- Measuring Absolute RNA Copy Numbers at High Temporal Resolution Reveals Transcriptome Kinetics in Development
- (2016) Nick D.L. Owens et al. Cell Reports
- Medical implications of technical accuracy in genome sequencing
- (2016) Rachel L. Goldfeder et al. Genome Medicine
- Adjusting microbiome profiles for differences in microbial load by spike-in bacteria
- (2016) Frank Stämmler et al. Microbiome
- Extensive sequencing of seven human genomes to characterize benchmark reference materials
- (2016) Justin M. Zook et al. Scientific Data
- Using Synthetic Mouse Spike-In Transcripts to Evaluate RNA-Seq Analysis Tools
- (2016) Dena Leshkowitz et al. PLoS One
- A somatic reference standard for cancer genome sequencing
- (2016) David W. Craig et al. Scientific Reports
- College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests
- (2015) Nazneen Aziz et al. ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
- Every base matters: assessing small subunit rRNA primers for marine microbiomes with mock communities, time series and global field samples
- (2015) Alma E. Parada et al. ENVIRONMENTAL MICROBIOLOGY
- Guidelines for diagnostic next-generation sequencing
- (2015) Gert Matthijs et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Next-Generation Sequencing for Infectious Disease Diagnosis and Management
- (2015) Martina I. Lefterova et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Unusual biology across a group comprising more than 15% of domain Bacteria
- (2015) Christopher T. Brown et al. NATURE
- De novo assembly of a haplotype-resolved human genome
- (2015) Hongzhi Cao et al. NATURE BIOTECHNOLOGY
- Good laboratory practice for clinical next-generation sequencing informatics pipelines
- (2015) Amy S Gargis et al. NATURE BIOTECHNOLOGY
- Large-scale whole-genome sequencing of the Icelandic population
- (2015) Daniel F Gudbjartsson et al. NATURE GENETICS
- Simple linear regression
- (2015) Naomi Altman et al. NATURE METHODS
- Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection
- (2015) Adam D Ewing et al. NATURE METHODS
- Computational and analytical challenges in single-cell transcriptomics
- (2015) Oliver Stegle et al. NATURE REVIEWS GENETICS
- Improving small RNA-seq by using a synthetic spike-in set for size-range quality control together with a set for data normalization
- (2015) Mauro D. Locati et al. NUCLEIC ACIDS RESEARCH
- Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios
- (2015) Søren Besenbacher et al. Nature Communications
- Extending reference assembly models
- (2015) Deanna M Church et al. GENOME BIOLOGY
- Advancing Benchmarks for Genome Sequencing
- (2015) Justin M. Zook et al. Cell Systems
- Optimizing Cancer Genome Sequencing and Analysis
- (2015) Malachi Griffith et al. Cell Systems
- The Road to Metagenomics: From Microbiology to DNA Sequencing Technologies and Bioinformatics
- (2015) Alejandra Escobar-Zepeda et al. Frontiers in Genetics
- Best practices for evaluating single nucleotide variant calling methods for microbial genomics
- (2015) Nathan D. Olson et al. Frontiers in Genetics
- The Precision-Recall Plot Is More Informative than the ROC Plot When Evaluating Binary Classifiers on Imbalanced Datasets
- (2015) Takaya Saito et al. PLoS One
- SASI-Seq: sample assurance Spike-Ins, and highly differentiating 384 barcoding for Illumina sequencing
- (2014) Michael A Quail et al. BMC GENOMICS
- Open-access synthetic spike-in mRNA-seq data for cancer gene fusions
- (2014) Waibhav D Tembe et al. BMC GENOMICS
- Analytical validation of whole exome and whole genome sequencing for clinical applications
- (2014) Michael D Linderman et al. BMC Medical Genomics
- Library preparation methods for next-generation sequencing: Tone down the bias
- (2014) Erwin L. van Dijk et al. EXPERIMENTAL CELL RESEARCH
- Methods-Based Proficiency Testing in Molecular Genetic Pathology
- (2014) Iris Schrijver et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing
- (2014) Lisa V. Kalman et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Milestone approval lifts Illumina's NGS from research into clinic
- (2014) Cormac Sheridan NATURE BIOTECHNOLOGY
- Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
- (2014) Justin M Zook et al. NATURE BIOTECHNOLOGY
- Multi-platform assessment of transcriptome profiling using RNA-seq in the ABRF next-generation sequencing study
- (2014) Sheng Li et al. NATURE BIOTECHNOLOGY
- A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium
- (2014) NATURE BIOTECHNOLOGY
- Normalization of RNA-seq data using factor analysis of control genes or samples
- (2014) Davide Risso et al. NATURE BIOTECHNOLOGY
- Sequencing depth and coverage: key considerations in genomic analyses
- (2014) David Sims et al. NATURE REVIEWS GENETICS
- Assessing technical performance in differential gene expression experiments with external spike-in RNA control ratio mixtures
- (2014) Sarah A. Munro et al. Nature Communications
- U-251 revisited: genetic drift and phenotypic consequences of long-term cultures of glioblastoma cells
- (2014) Anja Torsvik et al. Cancer Medicine
- Routine use of the Ion Torrent AmpliSeq™ Cancer Hotspot Panel for identification of clinically actionable somatic mutations
- (2013) Gregory J. Tsongalis et al. CLINICAL CHEMISTRY AND LABORATORY MEDICINE
- Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders
- (2013) C. Sue Richards et al. GENETICS IN MEDICINE
- ACMG clinical laboratory standards for next-generation sequencing
- (2013) Heidi L. Rehm et al. GENETICS IN MEDICINE
- Clinical Validation of a Next-Generation Sequencing Screen for Mutational Hotspots in 46 Cancer-Related Genes
- (2013) Rajesh R. Singh et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Development of a Genomic DNA Reference Material Panel for Myotonic Dystrophy Type 1 (DM1) Genetic Testing
- (2013) Lisa Kalman et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories
- (2013) Peter A C 't Hoen et al. NATURE BIOTECHNOLOGY
- Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
- (2013) Kristian Cibulskis et al. NATURE BIOTECHNOLOGY
- Systematic evaluation of spliced alignment programs for RNA-seq data
- (2013) Pär G Engström et al. NATURE METHODS
- Accounting for technical noise in single-cell RNA-seq experiments
- (2013) Philip Brennecke et al. NATURE METHODS
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Understanding the limitations of next generation sequencing informatics, an approach to clinical pipeline validation using artificial data sets
- (2013) Robert Daber et al. Cancer Genetics
- Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing
- (2013) Jason O'Rawe et al. Genome Medicine
- Characterizing and measuring bias in sequence data
- (2013) Michael G Ross et al. GENOME BIOLOGY
- Revisiting Global Gene Expression Analysis
- (2012) Jakob Lovén et al. CELL
- Transcriptional Amplification in Tumor Cells with Elevated c-Myc
- (2012) Charles Y. Lin et al. CELL
- Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing
- (2012) Iris Schrijver et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- A framework for human microbiome research
- (2012) NATURE
- Assuring the quality of next-generation sequencing in clinical laboratory practice
- (2012) Amy S Gargis et al. NATURE BIOTECHNOLOGY
- Synthetic Spike-in Standards Improve Run-Specific Systematic Error Analysis for DNA and RNA Sequencing
- (2012) Justin M. Zook et al. PLoS One
- A public resource facilitating clinical use of genomes
- (2012) Madeleine P. Ball et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Roadmap for Harmonization of Clinical Laboratory Measurement Procedures
- (2011) W. Greg Miller et al. CLINICAL CHEMISTRY
- Synthetic spike-in standards for RNA-seq experiments
- (2011) L. Jiang et al. GENOME RESEARCH
- Quality Assurance for Duchenne and Becker Muscular Dystrophy Genetic Testing
- (2011) Lisa Kalman et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Quality Assurance of RNA Expression Profiling in Clinical Laboratories
- (2011) Weihua Tang et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing
- (2011) Joke Reumers et al. NATURE BIOTECHNOLOGY
- Performance comparison of whole-genome sequencing platforms
- (2011) Hugo Y K Lam et al. NATURE BIOTECHNOLOGY
- Genotype and SNP calling from next-generation sequencing data
- (2011) Rasmus Nielsen et al. NATURE REVIEWS GENETICS
- Establishment of the first World Health Organization International Genetic Reference Panel for quantitation of BCR-ABL mRNA
- (2010) H. E. White et al. BLOOD
- Characterization of 107 Genomic DNA Reference Materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1
- (2010) Victoria M. Pratt et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- A scaling normalization method for differential expression analysis of RNA-seq data
- (2010) Mark D Robinson et al. GENOME BIOLOGY
- Development of Genomic Reference Materials for Cystic Fibrosis Genetic Testing
- (2009) Victoria M. Pratt et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- A comprehensive catalogue of somatic mutations from a human cancer genome
- (2009) Erin D. Pleasance et al. NATURE
- Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study
- (2007) Jean Amos Wilson et al. JOURNAL OF MOLECULAR DIAGNOSTICS
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