Diagnostic targETEd seQuencing adjudicaTion (DETEQT): Algorithms for Adjudicating Targeted Infectious Disease Next-Generation Sequencing Panels

Adrienne T. Hall,Amanda S. Graham,Chien-Chi Lo,Christina E. Douglas,Christopher P. Stefan,Jeffrey W. Koehler,Patrick S. Chain,Timothy D. Minogue,Turner A. Conrad

Optimized Digital Droplet PCR for BCR-ABL

Dietger Niederwieser,Georg-Nikolaus Franke,Jacqueline Maier,Kathrin Wildenberger,Michael Cross,Thoralf Lange

Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing

David P. Bick,Elissa Levin,Hyunseok P. Kang,James T. Lu,Jill Hagenkord,Kimberly A. Strong,Matthew Ferber,Sarah South

Editorial Board

Scientific Integrity Policy

Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct

Chen-Chi Wu,Chih-Shan Chen,Chuan-Jen Hsu,Pei-Lung Chen,Tien-Chen Liu,Yi-Hsin Lin,Yin-Hung Lin,Ying-Chang Lu

Table of Contents

Expedited Analysis and Reporting of Multiple Mutations that Modify Medical Management of Myeloid Malignancies: It's About (Turnaround) Time!

Adam Bagg,Michael J. Kluk

Rapid Next-Generation Sequencing Method for Prediction of Prostate Cancer Risks

Alexander Pearlman,Harry Ostrer,Johnny Loke,Kinnari Upadhyay,Stephen Freedland,Viacheslav Y. Fofanov,Vivian O,Yongzhao Shao

Accurate and Sensitive Analysis of Minimal Residual Disease in Acute Myeloid Leukemia Using Deep Sequencing of Single Nucleotide Variations

Anna Rehammar,Anne Tierens,Erik Delsing Malmberg,Erik Kristiansson,Jonas Abrahamsson,Julia Asp,Lars Palmqvist,Linda Fogelstrand,Mariana B. Pereira,Sara St？hlman,Tore Samuelsson

insiM: in silico Mutator Software for Bioinformatics Pipeline Validation of Clinical Next-Generation Sequencing Assays

Ibro Mujacic,Jeremy P. Segal,Lauren L. Ritterhouse,Sabah Kadri,Sushant A. Patil

An Optimized Workflow to Evaluate Estrogen Receptor Gene Mutations in Small Amounts of Cell-Free DNA

Agnes Jager,Anieta M. Sieuwerts,Bianca Mostert,Esther A. Reijm,Felix E. de Jongh,Jaco Kraan,John A. Foekens,John W.M. Martens,Lindsay Angus,Luc Y. Dirix,Maurice P.H.M. Jansen,Ngoc M. Van,Nick Beije,Paolo Vigneri,Paul Hamberg,Ronald van Marion,Silvia R. Vitale,Stefan Sleijfer

Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic Malignancies

Borahm Kim,Hyeonah Lee,Jong Rak Choi,Saeam Shin,Seung-Tae Lee

A Single-Tube, EuroClonality-Inspired, TRG Clonality Multiplex PCR Aids Management of Patients with Enteropathic Diseases, including from Formaldehyde-Fixed, Paraffin-Embedded Tissues

Amélie Trinquand,Bertrand Meresse,Christophe Cellier,Coralie Derrieux,David Sibon,Elizabeth Macintyre,Georgia Malamut,Julie Bruneau,Ludovic Lhermitte,Marion Alcantara,Nadine Cerf-Bensussan,Nicole Brousse,Olivier Hermine,Patrick Villarese,Thierry Molina,Virginie Verkarre

A Nanopore Sequencing–Based Assay for Rapid Detection of Gene Fusions

A. John Iafrate,Hayley Robinson,Jesse Lee,Long P. Le,Valentina Nardi,William R. Jeck

Translating Risk of Consumer-Initiated Genetic Testing

Barbara Zehnbauer

Instructions to Authors

An Innovative Multiplexed and Flexible Molecular Approach for the Differential Detection of Arboviruses

Albert Meyer,Antoine Biron,Chantal Fournier-Wirth,Emilie Blanc,Fanny Leon,Fran？ois Morvan,Isabelle Leparc-Goffart,Jean-Charles Brès,Jean-Fran？ois Cantaloube,Jean-Jacques Vasseur,Lilian Bruyère-Ostells,Myrielle Dupont-Rouzeyrol,Philippe Van de Perre,Pierre Gallian,Robin Reynier,Sara Salinas,Vincent Foulongne,Yannick Simonin

Ultra-Rapid Reporting of GENomic Targets (URGENTseq): Clinical Next-Generation Sequencing Results within 48 Hours of Sample Collection

Bedia A. Barkoh,C. Cameron Yin,Chi Young Ok,Courtney D. DiNardo,David Hatfield,Haitham Khogeer,John Galbincea,Keyur P. Patel,Kristen Floyd,L. Jeffrey Medeiros,Mark J. Routbort,Rajyalakshmi Luthra,Rashmi Kanagal-Shamanna,Roberto Ruiz-Cordero,Sanam Loghavi,Sergio Rodriguez,Wei Chen,Zhuang Zuo

Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients

Alekh Paranjapye,Ann Harris,Claude Férec,Hiroshi Ishiguro,Jenny L. Kerschner,Johanna Rommens,Marie-Pierre Audrézet,Miyuki Nakakuki,Sujana Ghosh,Wilmel R. Cosme

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

Addie I. Nesbitt,Ahmad N. Abou Tayoun,Alisha B. Wilkens,Avni B. Santani,Bryan L. Krock,Cara M. Skraban,Chao Wu,Elizabeth H. Denenberg,Elizabeth J. Bhoj,Elizabeth T. DeChene,Emma C. Bedoukian,Ian D. Krantz,Jennifer Tarpinian,Jill R. Murrell,Jorune Balciuniene,Kajia Cao,Kieran B. Pechter,Laura K. Conlin,Livija Medne,Mahdi Sarmady,Matthew A. Deardorff,Matthew C. Dulik,Minjie Luo,Qiaoning Guan,Samuel W. Baker,Xiaonan Zhao,Zhenming Yu

The Next Generation in Detection of Leukemia-Associated Translocations

Daniel E. Sabath

Editorial Board

Noncoding RNA Expression and Targeted Next-Generation Sequencing Distinguish Tubulocystic Renal Cell Carcinoma (TC-RCC) from Other Renal Neoplasms

Angela M. Araujo,Carla Sole,Charles H. Lawrie,Erika Larrea,Ibai Goicoechea,Isabel Alvarado-Cabrero,José I. López,Lorea Manterola,Maris Sperga,Marta Fernandez-Mercado,María Arestín,María Armesto,María M. Caffarel,Michal Michal,Ondrej Hes

Evaluation of a Hepatitis C Virus Core Antigen Assay in Plasma and Dried Blood Spot Samples

Angelica Soker,Behzad Hajarizadeh,Beth Catlett,Camelia Quek,Danica Martinez,Fran？ois M.J. Lamoury,Gavin Cloherty,Gregory J. Dore,Janaki Amin,Jason Grebely,Philip Cunningham,Philippa Marks,Tanya L. Applegate

Targeted Next-Generation Sequencing Is a Sensitive Tool for Differential Diagnosis of Myelodysplastic Syndromes in Bone Marrow Trephines

Alexander Brobeil,Andreas Br？uninger,Andreas K？bisch,Ann-Kathrin Desch,Benjamin Etschmann,Dieter K？rholz,Georg Schliesser,Kristin Kunze,Mathias Rummel,Mehmet K. Tur,Michael Kiehl,Stefan Gattenl？hner,Ulrich Günther,Wolfgang Blau

The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer: Considerations and Proof of Concept Using an Epilepsy Panel

Ahmad N. Abou Tayoun,Jorune Balciuniene,Mahdi Sarmady,Michael A. Gonzalez,Perry Evans,Rojeen Niazi

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

Charles Van Goethem,Charly Mathieu,David Baux,Delphine Lacourt,Gisele Bonne,Henri Pegeot,Kevin Yauy,Martin Krahn,Michel Koenig,Mireille Cossée,Raul Juntas Morales,Sylvie Tuffery-Giraud,Thomas Guignard,Vilma-Lotta Lehtokari

Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection

Anna Laura Putignano,Francesca Gensini,Gabriele Lorenzo Capone,Irene De Rienzo,Irene Paganini,Laura Papi,Roberta Sestini,Sharon Trujillo Saavedra,null

Effects of Collection and Processing Procedures on Plasma Circulating Cell-Free DNA from Cancer Patients

Andrea Ruiz-Valdepenas Martin de Almagro,Anna Piskorz,Bente Risberg,Carlos Caldas,Charlotte Hodgkin,Christine Parkinson,Dana W.Y. Tsui,Davina Gale,Dineika Chandrananda,Elizabeth Moore,Francesco Marass,Heather Biggs,James D. Brenton,James Morris,Linda Jones,Nitzan Rosenfeld,Sarah-Jane Dawson,Vincent Plagnol

Clinical Significance of DNA Variants in Chronic Myeloid Neoplasms: A Report of the Association for Molecular Pathology

Annette S. Kim,Jennifer Crow,Mark D. Ewalt,Mrudula Pullambhatla,Rachel Sargent,Rebecca F. McClure,Robyn L. Temple-Smolkin

Author Index

Deciphering Elevated Microsatellite Alterations at Selected Tetra/Pentanucleotide Repeats, Microsatellite Instability, and Loss of Heterozygosity in Colorectal Cancers

Chanjuan Shi,Cindy L. Vnencak-Jones,Justin M. Cates,Yang Wang

Hepatitis B Virus Covalently Closed Circular DNA–Selective Droplet Digital PCR: A Sensitive and Noninvasive Method for Hepatocellular Carcinoma Diagnosis?

Consolato Sergi,Fan Shen,Hui-lung Sun

Next-Generation Sequencing for Lymphomas: Perfecting a Pipeline for Personalized Pathobiologic and Prognostic Predictions

Adam Bagg,Andreas Rosenwald,Robert S. Ohgami

Instructions to Authors

Authors' Reply

Anas Younes,Apostolia M. Tsimberidou,Cindy L. Vnencak-Jones,Daynna J. Wolff,Eric J. Duncavage,Marilyn M. Li,Marina N. Nikiforova,Michael Datto,Neal I. Lindeman,Shashikant Kulkarni,Somak Roy

Simple Detection of Telomere Fusions in Pancreatic Cancer, Intraductal Papillary Mucinous Neoplasm, and Pancreatic Cyst Fluid

Anne McGregor-Das,Christopher Wolfgang,James R. Eshleman,Marco Dal Molin,Michael Goggins,Ralph H. Hruban,Tae Jun Song,Tatsuo Hata

Is Tubulocystic Renal Cell Carcinoma Real?: Genomic Analysis Confirms the World Health Organization Classification

Hiroshi Miyamoto,Paul G. Rothberg,Yi Ding

Navigating the Peer Review Process

Barbara Zehnbauer,Chhavi Chauhan,Emily H. Essex

Heterogeneity of BRAF, NRAS, and TERT Promoter Mutational Status in Multiple Melanomas and Association with MC1R Genotype: Findings from Molecular and Immunohistochemical Analysis

Ambra Antonini,Claudia Martorelli,Cristina Pellegrini,Gianluca Cipolloni,Ketty Peris,Laura Del Regno,Lucia Di Nardo,Maria Concetta Fargnoli,Maria Giovanna Maturo,Marina De Padova,Pietro Leocata,Sara Strafella,Tamara Micantonio

Development and Evaluation of a Pan-Sarcoma Fusion Gene Detection Assay Using the NanoString nCounter Platform

Aly Karsan,Angela Goytain,Cheng-Han Lee,Kenneth T.E. Chang,Tony L. Ng,Torsten O. Nielsen,Tracy Tucker

Table of Contents

Multicenter Evaluation of the Idylla NRAS-BRAF Mutation Test in Metastatic Colorectal Cancer

Barbara Dockhorn-Dworniczak,Beatriz Bellosillo,Christiana Rossenbach,Clara Montagut,Claudia M. Luna-Aguirre,Federico Rojo,Francesca Castiglione,Hendrikus J. Dubbink,Hilla Tabibian-Keissar,Hugo A. Barrera-Salda？a,Iván Prieto-Potin,Jean-Christophe Sabourin,José C. Machado,José L. Costa,Karl-Friedrich Bürrig,Linea Melchior,Livia Ronchetti,Lotte Douglas-Berger,Matthew Evans,Matthew Smith,Michael Bennett,Mohammed Alorini,Rinat Yacobi,Simonetta Buglioni,Ulrike Cooper,Veronica Pennati,Werner Reiltin

Describing the Reportable Range Is Important for Reliable Treatment Decisions: A Multiple Laboratory Study for Molecular Tumor Profiling Using Next-Generation Sequencing

Cleo Keppens,Ed Schuuring,Elisabeth M.C. Dequeker,Jeroen Van Houdt,Karen Zwaenepoel,Lien Spans,Patrick Pauwels,Véronique Tack

Scientific Integrity Policy

Evaluation of a Urine-Based Rapid Molecular Diagnostic Test with Potential to Be Used at Point-of-Care for Pulmonary Tuberculosis: Cape Town Cohort

Christof Geldmacher,Eric Rivera-Milla,Ines Labugger,Keertan Dheda,Krutarth Patel,Maria Wesolowski,Matilde Nagel,Michael Hoelscher,Stefan Dees

Editorial Board

Rapid, Loop-Mediated Isothermal Amplification Detection of Celiac Disease Risk Alleles

Efstratios Skafidas,Jason A. Tye-Din,Michael D. Varney,Michael Erlichster,Patrick Kwan

Chimerism Analysis in the Pediatric Setting: Direct PCR from Bone Marrow, Whole Blood, and Cell Fractions

Alistair Shaw,Charizel Villanueva,Lana Mhaldien,Paul Veys,Rozendo Fernandes,Stuart Adams,Susanne Kricke