Precision Medicine and Genetics

Electronic Video Consent to Power Precision Research: A Pilot Cohort Study

Arash Naeim, Sarah Dry, David Elashoff, Zhuoer Xie, Antonia Petruse, Clara Magyar, Lilliana Johansen, Gabriela Werre, Clara Lajonchere, Neil Wenger

JMIR Form Res 2021 (Sep 08); 5(9):e29123

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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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Construction of Genealogical Knowledge Graphs From Obituaries: Multitask Neural Network Extraction System

Kai He, Lixia Yao, JiaWei Zhang, Yufei Li, Chen Li

J Med Internet Res 2021 (Aug 04); 23(8):e25670

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Search Behavior Regarding Cancer Susceptibility Genes Using a Clinical Decision Support Tool for Gene-Specific Penetrance: Content Analysis

Kanhua Yin, Jingan Zhou, Preeti Singh, Jin Wang, Danielle Braun, Kevin S Hughes

JMIR Cancer 2021 (Jul 13); 7(3):e28527

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Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

Joséphine Lantoine, Anne Brysse, Vinciane Dideberg, Kathleen Claes, Sofie Symoens, Wim Coucke, Valérie Benoit, Sonia Rombout, Martine De Rycke, Sara Seneca, Lut Van Laer, Wim Wuyts, Anniek Corveleyn, Kris Van Den Bogaert, Catherine Rydlewski, Françoise Wilkin, Marie Ravoet, Elodie Fastré, Arnaud Capron, Nathalie Monique Vandevelde

JMIR Med Inform 2021 (Jul 12); 9(7):e27980

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Team Science in Precision Medicine: Study of Coleadership and Coauthorship Across Health Organizations

Ning An, John Mattison, Xinyu Chen, Gil Alterovitz

J Med Internet Res 2021 (Jun 14); 23(6):e17137

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Using a Tailored Digital Health Intervention for Family Communication and Cascade Genetic Testing in Swiss and Korean Families With Hereditary Breast and Ovarian Cancer: Protocol for the DIALOGUE Study

Sue Kim, Monica Aceti, Vasiliki Baroutsou, Nicole Bürki, Maria Caiata-Zufferey, Marco Cattaneo, Pierre O Chappuis, Florina M Ciorba, Rossella Graffeo-Galbiati, Viola Heinzelmann-Schwarz, Joon Jeong, MiSook M Jung, Sung-Won Kim, Jisun Kim, Myong Cheol Lim, Chang Ming, Christian Monnerat, Hyung Seok Park, Sang Hyung Park, Carla A Pedrazzani, Manuela Rabaglio, Jai Min Ryu, Ramon Saccilotto, Simon Wieser, Ursina Zürrer-Härdi, Maria C Katapodi

JMIR Res Protoc 2021 (Jun 11); 10(6):e26264

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Leveraging Genetic Reports and Electronic Health Records for the Prediction of Primary Cancers: Algorithm Development and Validation Study

Nansu Zong, Victoria Ngo, Daniel J Stone, Andrew Wen, Yiqing Zhao, Yue Yu, Sijia Liu, Ming Huang, Chen Wang, Guoqian Jiang

JMIR Med Inform 2021 (May 25); 9(5):e23586

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Leveraging Genomic Associations in Precision Digital Care for Weight Loss: Cohort Study

Ranjan Sinha, Dashyanng Kachru, Roshni Ray Ricchetti, Simitha Singh-Rambiritch, Karthik Marimuthu Muthukumar, Vidhya Singaravel, Carmel Irudayanathan, Chandana Reddy-Sinha, Imran Junaid, Garima Sharma, Patricia Alice Francis-Lyon

J Med Internet Res 2021 (May 19); 23(5):e25401

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Diagnostic Classification and Prognostic Prediction Using Common Genetic Variants in Autism Spectrum Disorder: Genotype-Based Deep Learning

Haishuai Wang, Paul Avillach

JMIR Med Inform 2021 (Apr 07); 9(4):e24754

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Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

Jianqiao Li, Margaret A Hojlo, Sampath Chennuri, Nitin Gujral, Heather L Paterson, Kent A Shefchek, Casie A Genetti, Emily L Cohn, Kara C Sewalk, Emily A Garvey, Elizabeth D Buttermore, Nickesha C Anderson, Alan H Beggs, Pankaj B Agrawal, John S Brownstein, Melissa A Haendel, Ingrid A Holm, Joseph Gonzalez-Heydrich, Catherine A Brownstein

J Med Internet Res 2021 (Mar 16); 23(3):e21023

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Barriers and Facilitators to Genetic Service Delivery Models: Scoping Review

Melissa Raspa, Rebecca Moultrie, Danielle Toth, Saira Naim Haque

Interact J Med Res 2021 (Feb 25); 10(1):e23523

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The Need for Education and Clinical Best Practice Guidelines in the Era of Direct-to-Consumer Genomic Testing

Madeleine Myers, Cinnamon Bloss

JMIR Med Educ 2020 (Dec 08); 6(2):e21787

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Direct-to-Consumer Genetic Ancestry Testing in Clinical Encounters: Perspectives From Psychotherapy Cases

Caryn Kseniya Rubanovich, Wendy Zhang, Cinnamon S Bloss

JMIR Ment Health 2020 (Nov 26); 7(11):e23596

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Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation

Alejandro Mendoza-Alvarez, Adrián Muñoz-Barrera, Luis Alberto Rubio-Rodríguez, Itahisa Marcelino-Rodriguez, Almudena Corrales, Antonio Iñigo-Campos, Ariel Callero, Eva Perez-Rodriguez, Jose Carlos Garcia-Robaina, Rafaela González-Montelongo, Jose Miguel Lorenzo-Salazar, Carlos Flores

J Med Internet Res 2020 (Oct 09); 22(10):e19040

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Data Heterogeneity: The Enzyme to Catalyze Translational Bioinformatics?

Eli M Cahan, Purvesh Khatri

J Med Internet Res 2020 (Aug 12); 22(8):e18044

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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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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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Ethical, Legal, and Social Issues Related to the Inclusion of Individuals With Intellectual Disabilities in Electronic Health Record Research: Scoping Review

Melissa Raspa, Rebecca Moultrie, Laura Wagner, Anne Edwards, Sara Andrews, Mary Katherine Frisch, Lauren Turner-Brown, Anne Wheeler

J Med Internet Res 2020 (May 21); 22(5):e16734

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Toward Earlier Diagnosis Using Combined eHealth Tools in Rheumatology: The Joint Pain Assessment Scoring Tool (JPAST) Project

Johannes Knitza, Rachel Knevel, Karim Raza, Tor Bruce, Ekaterina Eimer, Isabel Gehring, Linda Mathsson-Alm, Maryam Poorafshar, Axel J Hueber, Georg Schett, Martina Johannesson, Anca Catrina, Lars Klareskog, JPAST Group

JMIR Mhealth Uhealth 2020 (May 15); 8(5):e17507

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