Precision Medicine and Genetics

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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A User-Friendly, Web-Based Integrative Tool (ESurv) for Survival Analysis: Development and Validation Study

Kyoungjune Pak, Sae-Ock Oh, Tae Sik Goh, Hye Jin Heo, Myoung-Eun Han, Dae Cheon Jeong, Chi-Seung Lee, Hokeun Sun, Junho Kang, Suji Choi, Soohwan Lee, Eun Jung Kwon, Ji Wan Kang, Yun Hak Kim

J Med Internet Res 2020 (May 05); 22(5):e16084

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Blockchain-Authenticated Sharing of Genomic and Clinical Outcomes Data of Patients With Cancer: A Prospective Cohort Study

Benjamin Scott Glicksberg, Shohei Burns, Rob Currie, Ann Griffin, Zhen Jane Wang, David Haussler, Theodore Goldstein, Eric Collisson

J Med Internet Res 2020 (Mar 20); 22(3):e16810

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Valuable Genomes: Taxonomy and Archetypes of Business Models in Direct-to-Consumer Genetic Testing

Scott Thiebes, Philipp A Toussaint, Jaehyeon Ju, Jae-Hyeon Ahn, Kalle Lyytinen, Ali Sunyaev

J Med Internet Res 2020 (Jan 21); 22(1):e14890

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The Search for Consumers of Web-Based Raw DNA Interpretation Services: Using Social Media to Target Hard-to-Reach Populations

Tiernan J Cahill, Blake Wertz, Qiankun Zhong, Andrew Parlato, John Donegan, Rebecca Forman, Supriya Manot, Tianyi Wu, Yazhu Xu, James J Cummings, Tricia Norkunas Cunningham, Catharine Wang

J Med Internet Res 2019 (Jul 30); 21(7):e12980

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Health Care and Precision Medicine Research: Analysis of a Scalable Data Science Platform

Jacob McPadden, Thomas JS Durant, Dustin R Bunch, Andreas Coppi, Nathaniel Price, Kris Rodgerson, Charles J Torre Jr, William Byron, Allen L Hsiao, Harlan M Krumholz, Wade L Schulz

J Med Internet Res 2019 (Apr 09); 21(4):e13043

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Exploring Genetic Data Across Individuals: Design and Evaluation of a Novel Comparative Report Tool

Lauren Westendorf, Orit Shaer, Christina Pollalis, Clarissa Verish, Oded Nov, Mad Price Ball

J Med Internet Res 2018 (Sep 24); 20(9):e10297

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Information Needs in the Precision Medicine Era: How Genetics Home Reference Can Help

Heather Collins, Sherri Calvo, Kathleen Greenberg, Lisa Forman Neall, Stephanie Morrison

Interact J Med Res 2016 (Apr 27); 5(2):e13

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