Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material

Comparison of Next-Generation Sequencing and Mutation-Specific Platforms in Clinical Practice

(2015) John W. J. Hinrichs et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Validation of the Ion Torrent PGM sequencing for the prospective routine molecular diagnostic of colorectal cancer

(2015) Francesca Belardinilli et al.   CLINICAL BIOCHEMISTRY

Kinase Genotype Analysis of Gastric Gastrointestinal Stromal Tumor Cytology Samples Using Targeted Next-Generation Sequencing

(2015) Ferga C. Gleeson et al.   Clinical Gastroenterology and Hepatology

Simultaneous Detection of Clinically Relevant Mutations and Amplifications for Routine Cancer Pathology

(2015) Marlous Hoogstraat et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Quantitative Assessment of Mutant Allele Burden in Solid Tumors by Semiconductor-Based Next-Generation Sequencing

(2014) Bryce P. Portier et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Clinical Validation of KRAS, BRAF, and EGFR Mutation Detection Using Next-Generation Sequencing

(2014) Ming-Tseh Lin et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Plasma circulating tumor DNA as an alternative to metastatic biopsies for mutational analysis in breast cancer

(2014) F. Rothé et al.   ANNALS OF ONCOLOGY

Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAFmutations

(2014) Michaela Angelika Ihle et al.   BMC CANCER

Clinical next-generation sequencing in patients with non-small cell lung cancer

(2014) Ian S. Hagemann et al.   CANCER

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

(2014) Umberto Malapelle et al.   JOURNAL OF CLINICAL PATHOLOGY

Enabling a Genetically Informed Approach to Cancer Medicine: A Retrospective Evaluation of the Impact of Comprehensive Tumor Profiling Using a Targeted Next-Generation Sequencing Panel

(2014) D. B. Johnson et al.   ONCOLOGIST

Next-Generation Sequencing of RNA and DNA Isolated from Paired Fresh-Frozen and Formalin-Fixed Paraffin-Embedded Samples of Human Cancer and Normal Tissue

(2014) Jakob Hedegaard et al.   PLoS One

Reporting Tumor Molecular Heterogeneity in Histopathological Diagnosis

(2014) Andrea Mafficini et al.   PLoS One

Performance of amplicon-based next generation DNA sequencing for diagnostic gene mutation profiling in oncopathology

(2014) Daoud Sie et al.   CELLULAR ONCOLOGY

Navigating the Rapids: The Development of Regulated Next-Generation Sequencing-Based Clinical Trial Assays and Companion Diagnostics

(2014) Saumya Pant et al.   Frontiers in Oncology

Next-generation sequencing of formalin-fixed, paraffin-embedded tumor biopsies: navigating the perils of old and new technology to advance cancer diagnosis

(2013) Gary J Latham   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Comparison of Clinical Targeted Next-Generation Sequence Data from Formalin-Fixed and Fresh-Frozen Tissue Specimens

(2013) David H. Spencer et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Validation of a Next-Generation Sequencing Assay for Clinical Molecular Oncology

(2013) Catherine E. Cottrell et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

The estimation of tumor cell percentage for molecular testing by pathologists is not accurate

(2013) Alexander J J Smits et al.   MODERN PATHOLOGY

Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing

(2013) Garrett M Frampton et al.   NATURE BIOTECHNOLOGY

Validation of Next Generation Sequencing Technologies in Comparison to Current Diagnostic Gold Standards for BRAF, EGFR and KRAS Mutational Analysis

(2013) Clare M. McCourt et al.   PLoS One

Improved PCR Performance Using Template DNA from Formalin-Fixed and Paraffin-Embedded Tissues by Overcoming PCR Inhibition

(2013) Dimo Dietrich et al.   PLoS One

Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly

(2012) H. Li   BIOINFORMATICS

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

Next-generation sequencing in the clinic: Promises and challenges

(2012) Jiekun Xuan et al.   CANCER LETTERS

Performance comparison of benchtop high-throughput sequencing platforms

(2012) Nicholas J Loman et al.   NATURE BIOTECHNOLOGY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

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

(2010) William McLaren et al.   BIOINFORMATICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Next Generation Becomes the Now Generation

(2010) Diego A. Martinez et al.   PLoS Genetics

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Intratumor heterogeneity of epidermal growth factor receptor mutations in lung cancer and its correlation to the response to gefitinib

(2008) Kazuya Taniguchi et al.   CANCER SCIENCE

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE

Detection of Mutations inEGFRin Circulating Lung-Cancer Cells

(2008) Shyamala Maheswaran et al.   NEW ENGLAND JOURNAL OF MEDICINE