Published on in Vol 3, No 1 (2022): Jan-Dec

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/37701, first published .
Diagnosis of a Single-Nucleotide Variant in Whole-Exome Sequencing Data for Patients With Inherited Diseases: Machine Learning Study Using Artificial Intelligence Variant Prioritization

Diagnosis of a Single-Nucleotide Variant in Whole-Exome Sequencing Data for Patients With Inherited Diseases: Machine Learning Study Using Artificial Intelligence Variant Prioritization

Diagnosis of a Single-Nucleotide Variant in Whole-Exome Sequencing Data for Patients With Inherited Diseases: Machine Learning Study Using Artificial Intelligence Variant Prioritization

Journals

  1. Alganmi N, Bashanfar A, Alotaibi R, Banjar H, Karim S, Mirza Z, Abusamra H, Al-Attas M, Turkistany S, Abuzenadah A. Uncovering hidden genetic risk factors for breast and ovarian cancers in BRCA-negative women: a machine learning approach in the Saudi population. PeerJ Computer Science 2024;10:e1942 View
  2. Solomon B, Cheatham M, de Guimarães T, Duong D, Haendel M, Hsieh T, Javanmardi B, Johnson B, Krawitz P, Kruszka P, Laurent T, Lee N, McWalter K, Michaelides M, Mohnike K, Pontikos N, Guillen Sacoto M, Shwetar Y, Ustach V, Waikel R, Woof W. Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics. American Journal of Medical Genetics Part A 2025 View