Next-generation sequencing in routine brain tumor diagnostics enables an integrated diagnosis and identifies actionable targets

IDH mutant diffuse and anaplastic astrocytomas have similar age at presentation and little difference in survival: a grading problem for WHO

(2015) David E. Reuss et al.   ACTA NEUROPATHOLOGICA

Adult IDH wild type astrocytomas biologically and clinically resolve into other tumor entities

(2015) David E. Reuss et al.   ACTA NEUROPATHOLOGICA

A wide spectrum of EGFR mutations in glioblastoma is detected by a single clinical oncology targeted next-generation sequencing panel

(2015) Patrick J. Cimino et al.   EXPERIMENTAL AND MOLECULAR PATHOLOGY

Mutation detection in formalin-fixed prostate cancer biopsies taken at the time of diagnosis using next-generation DNA sequencing

(2015) David Manson-Bahr et al.   JOURNAL OF CLINICAL PATHOLOGY

The efficacy of uracil DNA glycosylase pretreatment in amplicon-based massively parallel sequencing with DNA extracted from archived formalin-fixed paraffin-embedded esophageal cancer tissues

(2015) Masakuni Serizawa et al.   Cancer Genetics

Development and Validation of a Scalable Next-Generation Sequencing System for Assessing Relevant Somatic Variants in Solid Tumors

(2015) Daniel H. Hovelson et al.   NEOPLASIA

ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an “integrated” diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma

(2014) David E. Reuss et al.   ACTA NEUROPATHOLOGICA

VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants

(2014) V. Obenchain et al.   BIOINFORMATICS

seqCNA: an R package for DNA copy number analysis in cancer using high-throughput sequencing

(2014) David Mosen-Ansorena et al.   BMC GENOMICS

International Society of Neuropathology-Haarlem Consensus Guidelines for Nervous System Tumor Classification and Grading

(2014) David N. Louis et al.   BRAIN PATHOLOGY

Genome Sequencing of SHH Medulloblastoma Predicts Genotype-Related Response to Smoothened Inhibition

(2014) Marcel Kool et al.   CANCER CELL

Sequence Artifacts in DNA from Formalin-Fixed Tissues: Causes and Strategies for Minimization

(2014) H. Do et al.   CLINICAL CHEMISTRY

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

A vaccine targeting mutant IDH1 induces antitumour immunity

(2014) Theresa Schumacher et al.   NATURE

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

(2014) Andy Rimmer et al.   NATURE GENETICS

Meningeal hemangiopericytoma and solitary fibrous tumors carry the NAB2-STAT6 fusion and can be diagnosed by nuclear expression of STAT6 protein

(2013) Leonille Schweizer et al.   ACTA NEUROPATHOLOGICA

Reducing Sequence Artifacts in Amplicon-Based Massively Parallel Sequencing of Formalin-Fixed Paraffin-Embedded DNA by Enzymatic Depletion of Uracil-Containing Templates

(2013) H. Do et al.   CLINICAL CHEMISTRY

Next-generation molecular genetics of brain tumours

(2013) Mario L. Suvà et al.   CURRENT OPINION IN NEUROLOGY

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

(2013) David T W Jones et al.   NATURE GENETICS

Hotspot Mutations in H3F3A and IDH1 Define Distinct Epigenetic and Biological Subgroups of Glioblastoma

(2012) Dominik Sturm et al.   CANCER CELL

Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody

(2011) David Capper et al.   ACTA NEUROPATHOLOGICA

“Next-Generation” Pathology and Laboratory Medicine

(2011) David N Louis et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

TEQC: an R package for quality control in target capture experiments

(2011) M. Hummel et al.   BIOINFORMATICS

deFuse: An Algorithm for Gene Fusion Discovery in Tumor RNA-Seq Data

(2011) Andrew McPherson et al.   PLoS Computational Biology

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

(2010) Heng Li et al.   BIOINFORMATICS

Comparison of Sanger Sequencing, Pyrosequencing, and Melting Curve Analysis for the Detection of KRAS Mutations

(2010) Athanasios C. Tsiatis et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Combined molecular analysis of BRAF and IDH1 distinguishes pilocytic astrocytoma from diffuse astrocytoma

(2009) Andrey Korshunov et al.   ACTA NEUROPATHOLOGICA

EGFRvIII-Targeted Vaccination Therapy of Malignant Glioma

(2009) Bryan D. Choi et al.   BRAIN PATHOLOGY