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

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

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

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

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

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

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

Translating Risk of Consumer-Initiated Genetic Testing

Barbara Zehnbauer

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

Author Index

Assessment of Capture and Amplicon-Based Approaches for the Development of a Targeted Next-Generation Sequencing Pipeline to Personalize Lymphoma Management

Andrew J. Mungall,Barbara Meissner,Christian Steidl,Daisuke Ennishi,David W. Scott,Elizabeth A. Chavez,Fong Chun Chan,Hennady P. Shulha,Joseph M. Connors,Marco A. Marra,Martin R. Jones,Merrill Boyle,Randy D. Gascoyne,Robert Kridel,Stacy S. Hung,Susana Ben-Neriah

Abstracts

Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR)/CRISPR-Associated Endonuclease Cas9–Mediated Homology-Independent Integration for Generating Quality Control Materials for Clinical Molecular Genetic Testing

Guigao Lin,Jiehong Xie,Jinming Li,Kuo Zhang,Rongxue Peng,Yanxi Han

Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions

EunRan Suh,Kaitlyn Grando,Vivianna M. Van Deerlin

Laboratory Information Systems and Instrument Software Lack Basic Functionality for Molecular Laboratories

Alexis B. Carter,Charles Myers,Matthew Swadley

Editorial Board

Assessing the Accuracy of Variant Detection in Cost-Effective Gene Panel Testing by Next-Generation Sequencing

Akiko Yoshida,Hiroko Morisaki,Kazuyuki Matsushita,Maeda Akiko,Makoto Ikeda,Motio Nishimura,Osamu Ohara,Ryoji Fujiki,Takayuki Morisaki,Tomoaki Tanaka,Tomohiko Ichikawa,Yue Yao

Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma Peritonei

Alex Mirnezami,Babatunde Rowaiye,Brendan Moran,Faheez Mohamed,Karen Pickard,Norman Carr,Reuben J. Pengelly,Sanjeev Dayal,Sarah Ennis,Tom Cecil,William Tapper

Clinical Implementation and Validation of Automated Human Genome Variation Society (HGVS) Nomenclature System for Next-Generation Sequencing–Based Assays for Cancer

Keith M. Callenberg,Liang Chen,Lucas Santana-Santos,Marina N. Nikiforova,Michelle B. De Moura,Somak Roy,Wayne L. Ernst,Yuri E. Nikiforov

Characterization of 108 Genomic DNA Reference Materials for 11 Human Leukocyte Antigen Loci: A GeT-RM Collaborative Project

Deborah Ferriola,Dimitri Monos,Jamie L. Duke,Lawrence Jennings,Lisa V. Kalman,Maria P. Bettinotti,Nikolaos Tairis,Timothy L. Mosbruger

Analytical Validation of a Next-Generation Sequencing Assay to Monitor Immune Responses in Solid Tumors

Angela Omilian,Antonios Papanicolau-Sengos,Blake Burgher,Carl Morrison,Felicia L. Lenzo,Fiona C.L. Hyland,Igor Puzanov,Jeffrey M. Conroy,Ji He,Jonathan Andreas,Lorenzo Galluzzi,Marc S. Ernstoff,Mark Gardner,Mary Nesline,Moachun Qin,Sarabjot Pabla,Sean T. Glenn,Vincent Giamo,Wiam Bshara

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists

Alexis B. Carter,Annette Leon,Arivarasan Karunamurthy,Chen Wang,Christopher Coldren,Eric W. Klee,Karl V. Voelkerding,Mrudula Pullambhatla,Nefize S. Kip,Robyn L. Temple-Smolkin,Somak Roy,Stephen E. Lincoln

Table of Contents

Identification of Germline Variants in Tumor Genomic Sequencing Analysis

D. Neil Hayes,Joel S. Parker,Karen E. Weck,Nathan D. Montgomery,Nirali M. Patel,Sara R. Selitsky

Telomere Diagnostics for Pancreatic Neoplasms and Cysts

Loren Joseph

Evaluation of Two Commercial Real-Time PCR Kits for Aspergillus DNA Detection in Bronchoalveolar Lavage Fluid in Patients with Invasive Pulmonary Aspergillosis

Elise Toussaint,Ermanno Candolfi,Faezeh Forouzanfar,Julie Denis,Marcela Sabou,Raoul Herbrecht,Romain Kessler,Valérie Letsher-Bru

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis

Alessandro Brussino,Alessandro Filla,Alfredo Brusco,Caterina Mariotti,Cecilia Mancini,Cinzia Gellera,Claudia Cagnoli,Eleonora Di Gregorio,Elisa Giorgio,Elisa Pozzi,Giovanni Stevanin,Giuseppe De Michele,Laura Orsi,Marina Ferrone,Marta Ferrero,Paola Giunti,Paola Salmin,Patrizia Pappi,Simona Cavalieri,Suran Nethisinghe

Title Page

Table of Contents

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

Editorial Board

Table of Contents

Detection of EGFR Variants in Plasma: A Multilaboratory Comparison of a Real-Time PCR EGFR Mutation Test in Europe

Alessandra Sacco,Antonio Marchetti,Boe Sorensen,Cleo Keppens,David Gonzalez de Castro,Ed Schuuring,Elisabeth M.C. Dequeker,Fernando Lopez-Rios,Francesca Fenizia,Hana Vosmikova,Izidor Kern,J. Han van Krieken,John F. Palma,Maria D. Lozano,Markus Tiemann,Nicola Normanno,Partha M. Das,Philippe Halfon,Phillipe Taniere,Selma H？nigschnabl,Sidney Scudder,Ulrike Setinek,Wei Wen