Genomics and Bioinformatics for Clinical Use

Effectiveness of Self-Collected, Ambient Temperature–Preserved Nasal Swabs Compared to Samples Collected by Trained Staff for Genotyping of Respiratory Viruses by Shotgun RNA Sequencing: Comparative Study

Raymond Soto, Litty Paul, Christina A Porucznik, Heng Xie, Rita Czako Stinnett, Benjamin Briggs, Matthew Biggerstaff, Joseph Stanford, Robert Schlaberg

JMIR Form Res 2023 (Nov 24); 7:e32848

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Secure Comparisons of Single Nucleotide Polymorphisms Using Secure Multiparty Computation: Method Development

Andrew Woods, Skyler T Kramer, Dong Xu, Wei Jiang

JMIR Bioinform Biotech 2023 (Jul 18); 4:e44700

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Effects of Pharmacogenomic Testing in Clinical Pain Management: Retrospective Study

Christian Tagwerker, Mary Jane Carias-Marines, David J Smith

JMIRx Med 2022 (May 03); 3(2):e32902

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The Easy-to-Use SARS-CoV-2 Assembler for Genome Sequencing: Development Study

Martina Rueca, Emanuela Giombini, Francesco Messina, Barbara Bartolini, Antonino Di Caro, Maria Rosaria Capobianchi, Cesare EM Gruber

JMIR Bioinform Biotech 2022 (Mar 14); 3(1):e31536

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Genomic Health Literacy Interventions in Pediatrics: Scoping Review

Aarushi Gupta, Joseph A Cafazzo, Maarten J IJzerman, Joost F Swart, Sebastiaan Vastert, Nico M Wulffraat, Susanne Benseler, Deborah Marshall, Rae Yeung, Marinka Twilt

J Med Internet Res 2021 (Dec 24); 23(12):e26684

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A Blockchain-Based Dynamic Consent Architecture to Support Clinical Genomic Data Sharing (ConsentChain): Proof-of-Concept Study

Faisal Albalwy, Andrew Brass, Angela Davies

JMIR Med Inform 2021 (Nov 03); 9(11):e27816

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Multiscale Biology of Cardiovascular Risk in Psoriasis: Protocol for a Case-Control Study

Hannah Kaiser, Amanda Kvist-Hansen, Christine Becker, Xing Wang, Benjamin D McCauley, Martin Krakauer, Peter Michael Gørtz, Kristoffer Mads Aaris Henningsen, Claus Zachariae, Lone Skov, Peter Riis Hansen

JMIR Res Protoc 2021 (Sep 28); 10(9):e28669

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Exploring the Use of Genomic and Routinely Collected Data: Narrative Literature Review and Interview Study

Helen Daniels, Kerina Helen Jones, Sharon Heys, David Vincent Ford

J Med Internet Res 2021 (Sep 24); 23(9):e15739

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Characterization of Global Research Trends and Prospects on Single-Cell Sequencing Technology: Bibliometric Analysis

Quan Wang, Ke-Lu Yang, Zhen Zhang, Zhu Wang, Chen Li, Lun Li, Jin-Hui Tian, Ying-Jiang Ye, Shan Wang, Ke-Wei Jiang

J Med Internet Res 2021 (Aug 10); 23(8):e25789

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A Biomedical Knowledge Graph System to Propose Mechanistic Hypotheses for Real-World Environmental Health Observations: Cohort Study and Informatics Application

Karamarie Fecho, Chris Bizon, Frederick Miller, Shepherd Schurman, Charles Schmitt, William Xue, Kenneth Morton, Patrick Wang, Alexander Tropsha

JMIR Med Inform 2021 (Jul 20); 9(7):e26714

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Fast Healthcare Interoperability Resources (FHIR)–Based Quality Information Exchange for Clinical Next-Generation Sequencing Genomic Testing: Implementation Study

Donghyeong Seong, Sungwon Jung, Sungchul Bae, Jongsuk Chung, Dae-Soon Son, Byoung-Kee Yi

J Med Internet Res 2021 (Apr 28); 23(4):e26261

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The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System

Elena Valeryevna Feofanova, Guo-Qiang Zhang, Samden Lhatoo, Ginger A Metcalf, Eric Boerwinkle, Eric Venner

JMIR Res Protoc 2021 (Mar 26); 10(3):e25576

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Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study

Qian Zhu, Dac-Trung Nguyen, Gioconda Alyea, Karen Hanson, Eric Sid, Anne Pariser

JMIR Med Inform 2020 (Oct 02); 8(10):e18395

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CoV-Seq, a New Tool for SARS-CoV-2 Genome Analysis and Visualization: Development and Usability Study

Boxiang Liu, Kaibo Liu, He Zhang, Liang Zhang, Yuchen Bian, Liang Huang

J Med Internet Res 2020 (Oct 02); 22(10):e22299

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Personal Health Information Inference Using Machine Learning on RNA Expression Data from Patients With Cancer: Algorithm Validation Study

Solbi Kweon, Jeong Hoon Lee, Younghee Lee, Yu Rang Park

J Med Internet Res 2020 (Aug 10); 22(8):e18387

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Clinical Genomic Sequencing Reports in Electronic Health Record Systems Based on International Standards: Implementation Study

Borim Ryu, Soo-Yong Shin, Rong-Min Baek, Jeong-Whun Kim, Eunyoung Heo, Inchul Kang, Joshua SungWoo Yang, Sooyoung Yoo

J Med Internet Res 2020 (Aug 10); 22(8):e15040

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Identification of High-Order Single-Nucleotide Polymorphism Barcodes in Breast Cancer Using a Hybrid Taguchi-Genetic Algorithm: Case-Control Study

Li-Yeh Chuang, Cheng-San Yang, Huai-Shuo Yang, Cheng-Hong Yang

JMIR Med Inform 2020 (Jun 17); 8(6):e16886

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Next-Generation Sequencing–Based Cancer Panel Data Conversion Using International Standards to Implement a Clinical Next-Generation Sequencing Research System: Single-Institution Study

Phillip Park, Soo-Yong Shin, Seog Yun Park, Jeonghee Yun, Chulmin Shin, Jipmin Jung, Kui Son Choi, Hyo Soung Cha

JMIR Med Inform 2020 (Apr 24); 8(4):e14710

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Public Views on Models for Accessing Genomic and Health Data for Research: Mixed Methods Study

Kerina H Jones, Helen Daniels, Emma Squires, David V Ford

J Med Internet Res 2019 (Aug 21); 21(8):e14384

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Using Pharmacogenomic Testing in Primary Care: Protocol for a Pilot Randomized Controlled Study

Beatriz Manzor Mitrzyk, Reema Kadri, Karen B Farris, Vicki L Ellingrod, Michael S Klinkman, Mack T Ruffin IV, Melissa A Plegue, Lorraine R Buis

JMIR Res Protoc 2019 (Aug 19); 8(8):e13848

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