1 |
Detecting and Targeting NTRK Fusions in Cancer in the Era of Tumor Agnostic Oncology |
|
|
| Kristoffer S. Rohrberg, Ulrik Lassen |
|
| Drugs. 2021; 81(4): 445 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
2 |
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan |
|
|
| Ta-Ching Chen, Ding-Siang Huang, Chao-Wen Lin, Chang-Hao Yang, Chung-May Yang, Victoria Y. Wang, Jou-Wei Lin, Allen Chilun Luo, Fung-Rong Hu, Pei-Lung Chen |
|
| npj Genomic Medicine. 2021; 6(1) |
|
| [Pubmed] [Google Scholar] [DOI] |
|
3 |
Pathologists at the Leading Edge of Optimizing the Tumor Tissue Journey for Diagnostic Accuracy and Molecular Testing |
|
|
| Luis E De Las Casas, David G Hicks |
|
| American Journal of Clinical Pathology. 2021; 155(6): 781 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
4 |
GenoVault: a cloud based genomics repository |
|
|
| Sankalp Jain, Amit Saxena, Suprit Hesarur, Kirti Bhadhadhara, Neeraj Bharti, Sunitha Manjari Kasibhatla, Uddhavesh Sonavane, Rajendra Joshi |
|
| BioData Mining. 2021; 14(1) |
|
| [Pubmed] [Google Scholar] [DOI] |
|
5 |
Single-Cell Multiomics Analysis for Drug Discovery |
|
|
| Sam F. Nassar, Khadir Raddassi, Terence Wu |
|
| Metabolites. 2021; 11(11): 729 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
6 |
Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing |
|
|
| Hiroki Ura, Sumihito Togi, Yo Niida |
|
| International Journal of Molecular Sciences. 2020; 21(10): 3530 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
7 |
Precision community: a mixed methods study to identify determinants of adoption and implementation of targeted cancer therapy in community oncology |
|
|
| Jenna Ball, Jeffrey Thompson, Elizabeth Wulff-Burchfield, Edward Ellerbeck, Kim Kimminau, Joanna Veazey Brooks, Shariska Petersen, Duncan Rotich, Anita Y. Kinney, Shellie D. Ellis |
|
| Implementation Science Communications. 2020; 1(1) |
|
| [Pubmed] [Google Scholar] [DOI] |
|
8 |
Next Generation Sequencing and Machine Learning Technologies Are Painting the Epigenetic Portrait of Glioblastoma |
|
|
| Ivana Jovcevska |
|
| Frontiers in Oncology. 2020; 10 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
9 |
Immune-associated biomarkers for early diagnosis of Parkinson’s disease based on hematological lncRNA–mRNA co-expression |
|
|
| Kecheng Lei, Liwen Zhang, Yijing He, Hui Sun, Weifang Tong, Yichun Xu, Lingjing Jin |
|
| Bioscience Reports. 2020; 40(12) |
|
| [Pubmed] [Google Scholar] [DOI] |
|
10 |
Recent developments in genetic/genomic medicine |
|
|
| Rachel H. Horton, Anneke M. Lucassen |
|
| Clinical Science. 2019; 133(5): 697 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
11 |
Rat mRNA expression profiles associated with inhibition of ischemic acute kidney injury by losartan |
|
|
| Yijin Wu, Wenying Peng, Ru Wei, Yanhe Zhou, Miaoxian Fang, Siyi Liu, Yujun Deng, Qi Yin, Xin Ouyang, Linhui Hu, Yating Hou, Chunbo Chen |
|
| Bioscience Reports. 2019; 39(4) |
|
| [Pubmed] [Google Scholar] [DOI] |
|
12 |
Integrated Pathology Informatics Enables High-Quality Personalized and Precision Medicine: Digital Pathology and Beyond |
|
|
| Zoya Volynskaya,Hung Chow,Andrew Evans,Alan Wolff,Cecilia Lagmay-Traya;,Sylvia L. Asa |
|
| Archives of Pathology & Laboratory Medicine. 2018; 142(3): 369 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
13 |
HPV Genotyping of Modified General Primer-Amplicons Is More Analytically Sensitive and Specific by Sequencing than by Hybridization |
|
|
| Roger Meisal,Trine Ballestad Rounge,Irene Kraus Christiansen,Alexander Kirkeby Eieland,Merete Molton Worren,Tor Faksvaag Molden,Øyvind Kommedal,Eivind Hovig,Truls Michael Leegaard,Ole Herman Ambur,Francisco Renán Aguayo |
|
| PLOS ONE. 2017; 12(1): e0169074 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
14 |
Microfluidics for genome-wide studies involving next generation sequencing |
|
|
| Sai Ma,Travis W. Murphy,Chang Lu |
|
| Biomicrofluidics. 2017; 11(2): 021501 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
15 |
A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree |
|
|
| Michael A. Eberle,Epameinondas Fritzilas,Peter Krusche,Morten Källberg,Benjamin L. Moore,Mitchell A. Bekritsky,Zamin Iqbal,Han-Yu Chuang,Sean J. Humphray,Aaron L. Halpern,Semyon Kruglyak,Elliott H. Margulies,Gil McVean,David R. Bentley |
|
| Genome Research. 2017; 27(1): 157 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
16 |
Next-Generation Sequencing and Result Interpretation in Clinical Oncology: Challenges of Personalized Cancer Therapy |
|
|
| Yekaterina B. Khotskaya,Gordon B. Mills,Kenna R. Mills Shaw |
|
| Annual Review of Medicine. 2017; 68(1): 113 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
17 |
Bioinformatory-assisted analysis of next-generation sequencing data for precision medicine in pancreatic cancer |
|
|
| Linnéa Malgerud,Johan Lindberg,Valtteri Wirta,Maria Gustafsson-Liljefors,Masoud Karimi,Carlos Fernández Moro,Katrin Stecker,Alexander Picker,Carolin Huelsewig,Martin Stein,Regina Bohnert,Marco Del Chiaro,Stephan L. Haas,Rainer L. Heuchel,Johan Permert,Markus J. Maeurer,Stephan Brock,Caroline S. Verbeke,Lars Engstrand,David B. Jackson,Henrik Grönberg,Johannes- Matthias Löhr |
|
| Molecular Oncology. 2017; |
|
| [Pubmed] [Google Scholar] [DOI] |
|
18 |
Big data from small samples: Informatics of next-generation sequencing in cytopathology |
|
|
| Sinchita Roy-Chowdhuri,Somak Roy,Sara E. Monaco,Mark J. Routbort,Liron Pantanowitz |
|
| Cancer Cytopathology. 2016; |
|
| [Pubmed] [Google Scholar] [DOI] |
|
19 |
Precision medicine in the age of big data: The present and future role of large-scale unbiased sequencing in drug discovery and development |
|
|
| P Vicini,O Fields,E Lai,ED Litwack,A-M Martin,TM Morgan,MA Pacanowski,M Papaluca,OD Perez,MS Ringel,M Robson,H Sakul,J Vockley,T Zaks,M Dolsten,M Søgaard |
|
| Clinical Pharmacology & Therapeutics. 2016; 99(2): 198 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
20 |
The South Green portal: a comprehensive resource for tropical and Mediterranean crop genomics |
|
|
| |
|
| Current Plant Biology. 2016; 7-8: 6 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
21 |
Rapid infectious disease identification by next-generation DNA sequencing |
|
|
| Jeremy E. Ellis,Dara S. Missan,Matthew Shabilla,Delyn Martinez,Stephen E. Fry |
|
| Journal of Microbiological Methods. 2016; |
|
| [Pubmed] [Google Scholar] [DOI] |
|
22 |
Decoding transcriptional enhancers: Evolving from annotation to functional interpretation |
|
|
| Krysta L. Engel,Mark Mackiewicz,Andrew A. Hardigan,Richard M. Myers,Daniel Savic |
|
| Seminars in Cell & Developmental Biology. 2016; |
|
| [Pubmed] [Google Scholar] [DOI] |
|
23 |
Development of a database system and image viewer to assist in the correlation of histopathologic features and digital image analysis with clinical and molecular genetic information |
|
|
| Yukako Yagi,Gregory Riedlinger,Xun Xu,Akira Nakamura,Bruce Levy,A. John Iafrate,Mari Mino-Kenudson,Veronica E. Klepeis |
|
| Pathology International. 2016; 66(2): 63 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
24 |
Assessment of the latest NGS enrichment capture methods in clinical context |
|
|
| Gema García-García,David Baux,Valérie Faugère,Mélody Moclyn,Michel Koenig,Mireille Claustres,Anne-Françoise Roux |
|
| Scientific Reports. 2016; 6: 20948 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
25 |
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations |
|
|
| Matthew Carrigan,Emma Duignan,Conor P. G. Malone,Kirk Stephenson,Tahira Saad,Ciara McDermott,Andrew Green,David Keegan,Peter Humphries,Paul F. Kenna,G. Jane Farrar |
|
| Scientific Reports. 2016; 6: 33248 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
26 |
Next-generation sequencing revolution through big data analytics |
|
|
| Rashmi Tripathi,Pawan Sharma,Pavan Chakraborty,Pritish Kumar Varadwaj |
|
| Frontiers in Life Science. 2016; : 1 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
27 |
The role of metabolomics in precision medicine |
|
|
| Soumeya Bekri |
|
| Expert Review of Precision Medicine and Drug Development. 2016; 1(6): 517 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
28 |
Accurate Sample Assignment in a Multiplexed, Ultrasensitive, High-Throughput Sequencing Assay for Minimal Residual Disease |
|
|
| Jack Bartram,Edward Mountjoy,Tony Brooks,Jeremy Hancock,Helen Williamson,Gary Wright,John Moppett,Nick Goulden,Mike Hubank |
|
| The Journal of Molecular Diagnostics. 2016; |
|
| [Pubmed] [Google Scholar] [DOI] |
|
29 |
VDAP-GUI: a user-friendly pipeline for variant discovery and annotation of raw next-generation sequencing data |
|
|
| Ramesh Menon,Namrata V. Patel,Amitbikram Mohapatra,Chaitanya G. Joshi |
|
| 3 Biotech. 2016; 6(1) |
|
| [Pubmed] [Google Scholar] [DOI] |
|
30 |
Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care |
|
|
| Hanna Rennert,Kenneth Eng,Tuo Zhang,Adrian Tan,Jenny Xiang,Alessandro Romanel,Robert Kim,Wayne Tam,Yen-Chun Liu,Bhavneet Bhinder,Joanna Cyrta,Himisha Beltran,Brian Robinson,Juan Miguel Mosquera,Helen Fernandes,Francesca Demichelis,Andrea Sboner,Michael Kluk,Mark A Rubin,Olivier Elemento |
|
| npj Genomic Medicine. 2016; 1: 16019 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
31 |
Clinician Perspective on Molecular Profiling of Non–Small-Cell Lung Cancer |
|
|
| Marios P. Decatris,David Farrugia,Kenneth J. O’Byrne |
|
| Journal of Clinical Oncology. 2016; 34(8): 884 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
32 |
PNA clamping-assisted fluorescence melting curve analysis for detecting EGFR and KRAS mutations in the circulating tumor DNA of patients with advanced non-small cell lung cancer |
|
|
| Ji-Youn Han,Jae-Jin Choi,Jin Young Kim,You Lim Han,Geon Kook Lee |
|
| BMC Cancer. 2016; 16(1) |
|
| [Pubmed] [Google Scholar] [DOI] |
|
33 |
Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism Investigations |
|
|
| Abdellah Tebani,Carlos Afonso,Stéphane Marret,Soumeya Bekri |
|
| International Journal of Molecular Sciences. 2016; 17(9): 1555 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
34 |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases |
|
|
| Jaya Punetha,Akanchha Kesari,Prech Uapinyoying,Mamta Giri,Nigel F. Clarke,Leigh B. Waddell,Kathryn N. North,Roula Ghaoui,Gina L. O’Grady,Emily C. Oates,Sarah A. Sandaradura,Carsten G. Bönnemann,Sandra Donkervoort,Paul H. Plotz,Edward C. Smith,Carolina Tesi-Rocha,Tulio E. Bertorini,Mark A. Tarnopolsky,Bernd Reitter,Irena Hausmanowa-Petrusewicz,Eric P. Hoffman |
|
| Journal of Neuromuscular Diseases. 2016; 3(2): 209 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
35 |
Next-Generation Sequencing Informatics: Challenges and Strategies for Implementation in a Clinical Environment |
|
|
| Somak Roy,William A. LaFramboise,Yuri E. Nikiforov,Marina N. Nikiforova,Mark J. Routbort,John Pfeifer,Rakesh Nagarajan,Alexis B. Carter,Liron Pantanowitz |
|
| Archives of Pathology & Laboratory Medicine. 2016; 140(9): 958 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
36 |
Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants |
|
|
| Kyung Kim,Moon-Woo Seong,Won-Hyong Chung,Sung Sup Park,Sangseob Leem,Won Park,Jihyun Kim,KiYoung Lee,Rae Woong Park,Namshin Kim |
|
| Genomics & Informatics. 2015; 13(2): 31 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
37 |
College of American Pathologistsæ Laboratory Standards for Next-Generation Sequencing Clinical Tests |
|
|
| Nazneen Aziz,Qin Zhao,Lynn Bry,Denise K. Driscoll,Birgit Funke,Jane S. Gibson,Wayne W. Grody,Madhuri R. Hegde,Gerald A. Hoeltge,Debra G. B. Leonard,Jason D. Merker,Rakesh Nagarajan,Linda A. Palicki,Ryan S. Robetorye,Iris Schrijver,Karen E. Weck,Karl V. Voelkerding |
|
| Archives of Pathology & Laboratory Medicine. 2015; 139(4): 481 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
38 |
Genomics in the clinic: ethical and policy challenges in clinical next-generation sequencing programs at early adopter USA institutions |
|
|
| Lauren C Milner,Nanibaaæ A Garrison,Mildred K Cho,Russ B Altman,Louanne Hudgins,Stephen J Galli,Henry J Lowe,Iris Schrijver,David C Magnus |
|
| Personalized Medicine. 2015; 12(3): 269 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
39 |
Bioinformatics for Clinical Next Generation Sequencing |
|
|
| Gavin R Oliver, Steven N Hart, Eric W Klee |
|
| Clinical Chemistry. 2015; 61(1): 124 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
40 |
A bioinformatic framework for immune repertoire diversity profiling enables detection of immunological status |
|
|
| Victor Greiff,Pooja Bhat,Skylar C. Cook,Ulrike Menzel,Wenjing Kang,Sai T. Reddy |
|
| Genome Medicine. 2015; 7(1) |
|
| [Pubmed] [Google Scholar] [DOI] |
|
41 |
Sambamba: fast processing of NGS alignment formats |
|
|
| Artem Tarasov,Albert J. Vilella,Edwin Cuppen,Isaac J. Nijman,Pjotr Prins |
|
| Bioinformatics. 2015; 31(12): 2032 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
42 |
Customizing Laboratory Information Systems |
|
|
| Peter Gershkovich,John H. Sinard |
|
| Advances In Anatomic Pathology. 2015; 22(5): 323 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
43 |
Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives |
|
|
| Vincenza Precone,Valentina Del Monaco,Maria Valeria Esposito,Fatima Domenica Elisa De Palma,Anna Ruocco,Francesco Salvatore,Valeria D’Argenio |
|
| BioMed Research International. 2015; 2015: 1 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
44 |
Proficiency testing for bacterial whole genome sequencing: an end-user survey of current capabilities, requirements and priorities |
|
|
| Jacob Moran-Gilad,Vitali Sintchenko,Susanne Karlsmose Pedersen,William J Wolfgang,James Pettengill,Errol Strain,Rene S Hendriksen |
|
| BMC Infectious Diseases. 2015; 15(1) |
|
| [Pubmed] [Google Scholar] [DOI] |
|
45 |
Understanding next generation sequencing in oncology: A guide for oncologists |
|
|
| Sing Yu Moorcraft,David Gonzalez,Brian A. Walker |
|
| Critical Reviews in Oncology/Hematology. 2015; 96(3): 463 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
46 |
Human biological sample biobanking to support tissue biomarkers in pharmaceutical research and development |
|
|
| Christopher Womack,S. Rachel Mager |
|
| Methods. 2014; |
|
| [Pubmed] [Google Scholar] [DOI] |
|
47 |
Challenges and Prospects for Biomarker Research: A Current Perspective from Developing World |
|
|
| Shabarni Gupta,Apoorva Venkatesh,Sandipan Ray,Sanjeeva Srivastava |
|
| Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics. 2014; |
|
| [Pubmed] [Google Scholar] [DOI] |
|
48 |
Molecular Testing in Oncology: Problems, Pitfalls and Progress |
|
|
| Cathal P. O’Brien,Sarah E. Taylor,John J. O’Leary,Stephen P. Finn |
|
| Lung Cancer. 2014; |
|
| [Pubmed] [Google Scholar] [DOI] |
|
49 |
Identification of Novel Single Nucleotide Polymorphisms Associated with Acute Respiratory Distress Syndrome by Exome-Seq |
|
|
| Katherine Shortt,Suman Chaudhary,Dmitry Grigoryev,Daniel P. Heruth,Lakshmi Venkitachalam,Li Q. Zhang,Shui Q. Ye,You-Yang Zhao |
|
| PLoS ONE. 2014; 9(11): e111953 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
50 |
Whole Genome Sequencing as a Diagnostic Test: Challenges and Opportunities |
|
|
| Caitlin C Chrystoja, Eleftherios P Diamandis |
|
| Clinical Chemistry. 2014; 60(5): 724 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
51 |
Incorporation of Personal Single Nucleotide Polymorphism (SNP) Data into a National Level Electronic Health Record for Disease Risk Assessment, Part 1: An Overview of Requirements |
|
|
| Timur Beyan,Yesim Aydin Son |
|
| JMIR Medical Informatics. 2014; 2(2): e15 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
52 |
Targeted next-generation sequencing: the clinician’s stethoscope for genetic disorders |
|
|
| Jan Haas,Ioana Barb,Hugo A Katus,Benjamin Meder |
|
| Personalized Medicine. 2014; 11(6): 581 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
53 |
High-Throughput Sequencing, a VersatileWeapon to Support Genome-Based Diagnosis in Infectious Diseases: Applications to Clinical Bacteriology |
|
|
| Ségolène Caboche,Christophe Audebert,David Hot |
|
| Pathogens. 2014; 3(2): 258 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
54 |
Integrating next-generation sequencing into clinical cancer diagnostics |
|
|
| Maurice Chan,Charlie W-H Lee,Mengchu Wu |
|
| Expert Review of Molecular Diagnostics. 2013; 13(7): 647 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
55 |
Genomic analyses of RH alleles to improve transfusion therapy in patients with sickle cell disease |
|
|
| Marion E. Reid,Christine Halter Hipsky,Kim Hue-Roye,Carolyn Hoppe |
|
| Blood Cells, Molecules, and Diseases. 2013; |
|
| [Pubmed] [Google Scholar] [DOI] |
|
56 |
Development of Blood Biomarkers for Drug-Induced Liver Injury: An Evaluation of Their Potential for Risk Assessment and Diagnostics |
|
|
| David E. Amacher,Shelli J. Schomaker,Jiri Aubrecht |
|
| Molecular Diagnosis & Therapy. 2013; 17(6): 343 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
57 |
Mutated Ephrin Receptor Genes in Non-Small Cell Lung Carcinoma and Their Occurrence with Driver Mutations-Targeted Resequencing Study on Formalin-Fixed, Paraffin-Embedded Tumor Material of 81 Patients |
|
|
| Satu Mäki-Nevala,Virinder Kaur Sarhadi,Katja Tuononen,Sonja Lagström,Pekka Ellonen,Mikko Rönty,Aino Wirtanen,Aija Knuuttila,Sakari Knuutila |
|
| Genes, Chromosomes and Cancer. 2013; 52(12): 1141 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
58 |
Electronic health record design and implementation for pharmacogenomics: a local perspective |
|
|
| Josh F. Peterson,Erica Bowton,Julie R. Field,Marc Beller,Jennifer Mitchell,Jonathan Schildcrout,William Gregg,Kevin Johnson,Jim N. Jirjis,Dan M. Roden,Jill M. Pulley,Josh C. Denny |
|
| Genetics in Medicine. 2013; 15(10): 833 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
59 |
The undiscovered country: the future of integrating genomic information into the EHR |
|
|
| Joseph Kannry,Marc S. Williams |
|
| Genetics in Medicine. 2013; 15(10): 842 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
60 |
Interpretation, Stratification and Evidence for Sequence Variants Affecting mRNA Splicing in Complete Human Genome Sequences |
|
|
| Ben C. Shirley,Eliseos J. Mucaki,Tyson Whitehead,Paul I. Costea,Pelin Akan,Peter K. Rogan |
|
| Genomics, Proteomics & Bioinformatics. 2013; 11(2): 77 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
61 |
SeqReporter |
|
|
| Somak Roy,Mary Beth Durso,Abigail Wald,Yuri E. Nikiforov,Marina N. Nikiforova |
|
| The Journal of Molecular Diagnostics. 2013; |
|
| [Pubmed] [Google Scholar] [DOI] |
|