Abdelwahab O, and Davoud Torkamaneh (2025) Artificial Intelligence in Variant Calling: A Review. Front Bioinf 5(April):1574359

Article  Google Scholar 

Abdelwahab O, Belzile François, and Davoud Torkamaneh (2023) Performance Analysis of Conventional and AI-Based Variant Callers Using Short and Long Reads. BMC Bioinformatics 24(1):472

Article  CAS  PubMed  PubMed Central  Google Scholar 

Abdelwanis M, Simsekler MCE, Adriana F, Gabor A, Sleptchenko, and Mohammad Omar (2026) Artificial Intelligence Adoption Challenges from Healthcare Providers’ Perspectives: A Comprehensive Review and Future Directions. Saf Sci 193(107028):107028

Article  Google Scholar 

Agaoglu N, Bugra B, Unal OA, Dogan et al (2022) Consistency of Variant Interpretations among Bioinformaticians and Clinical Geneticists in Hereditary Cancer Panels. Eur J Hum Genetics: EJHG 30(3):378–383

Article  CAS  PubMed  Google Scholar 

Alexander EP (2026) RAG Is Blind to Time — I Built a Temporal Layer to Fix It in Production. Towards Data Sci, May 9. https://towardsdatascience.com/rag-is-blind-to-time-i-built-a-temporal-layer-to-fix-it-in-production/

Allot A, Wei C-H, Lon Phan, et al (2023) Tracking Genetic Variants in the Biomedical Literature Using LitVar 2.0. Nat Genet 55(6):901–903

Article  CAS  PubMed  PubMed Central  Google Scholar 

Annual Report (2023). 2023. Partners in Health. 2023. Partners in Health. https://www.pih.org/sites/default/files/2023-12/2023%20Annual%20Report.pdf

ElArab RA, AlMoosa OA (2025) Systematic Review of Cost Effectiveness and Budget Impact of Artificial Intelligence in Healthcare. Npj Digit Med 8(1):548. https://doi.org/10.1038/s41746-025-01722-y

Article  PubMed  PubMed Central  Google Scholar 

Balmaña J, Digiovanni L, Gaddam P et al (2016) Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing. J Clin Oncology: Official J Am Soc Clin Oncol 34(34):4071–4078

Article  Google Scholar 

Beutel G, Geerits E, Kielstein JT (2023) Artificial Hallucination: GPT on LSD? Crit Care (London England) 27(1):148

Article  Google Scholar 

Biesecker L, Rehm H, Tayoun AA et al (2026) P593: Piloting the Forthcoming ACMG/AMP/CAP/ClinGen Standards for Sequence Variant Classification. Genet Med Open 4(104084):104084

Article  Google Scholar 

QIAGEN Digital Insights (2025) Franklin - Bioinformatics Software. June 3. https://digitalinsights.qiagen.com/franklin/

Brand F, Guski J, Krawitz P (2024) Extending DeepTrio for Sensitive Detection of Complex de Novo Mutation Patterns. NAR Genomics Bioinf 6(1):lqae013

Article  Google Scholar 

Brixi G, Durrant MG, Jerome Ku, et al (2026) Genome Modelling and Design across All Domains of Life with Evo 2. Nature March 4:1–13

Google Scholar 

Campeau PM (2022) An All-Encompassing Variant Classification System Proposed. Eur J Hum Genet 30(2):139

Article  PubMed  Google Scholar 

Center for Devices, and Radiological Health (2025b) Predetermined Change Control Plans for Machine Learning-Enabled Medical Devices: Guiding Principles. U.S. Food and Drug Administration, FDA, August 18. https://www.fda.gov/medical-devices/software-medical-device-samd/predetermined-change-control-plans-machine-learning-enabled-medical-devices-guiding-principles

Center for Devices, and Radiological Health (2025a) Good Machine Learning Practice for Medical Device Development: Guiding Principles. U.S. Food and Drug Administration, FDA, March 25. https://www.fda.gov/medical-devices/software-medical-device-samd/good-machine-learning-practice-medical-device-development-guiding-principles

Chatelain Amélie (2025) RAG Is Dead, Long Live RAG: Retrieval in the Age of Agents. LightOn, November 12. https://lighton.ai/lighton-blogs/rag-is-dead-long-live-rag-retrieval-in-the-age-of-agents

Chen X, Wang L, You M et al (2024) Evaluating and Enhancing Large Language Models’ Performance in Domain-Specific Medicine: Development and Usability Study with DocOA. J Med Internet Res 26(1):e58158

Article  PubMed  PubMed Central  Google Scholar 

Cloud4C. (2024) Machine Learning vs Deep Learning vs LLMs vs GenAI: Explained and How Are They Different from Each Other? May 3. https://www.cloud4c.com/blogs/genai-vs-machine-learning-vs-deep-learning-vs-llms

Daneshjou R, Vodrahalli K, Novoa RA et al (2022) Disparities in Dermatology AI Performance on a Diverse, Curated Clinical Image Set. Sci Adv 8(32):eabq6147

Article  PubMed  PubMed Central  Google Scholar 

Dastin J (2018) Insight - Amazon Scraps Secret AI Recruiting Tool That Showed Bias against Women. Reuters, October 11. https://www.reuters.com/article/world/insight-amazon-scraps-secret-ai-recruiting-tool-that-showed-bias-against-women-idUSKCN1MK0AG/

Delgado J, de Manuel A, Iris Parra, et al (2022) Bias in Algorithms of AI Systems Developed for COVID-19: A Scoping Review. J Bioethical Inq 19(3):407–419

Article  Google Scholar 

Dhingra B, Cole JR, Eisenschlos JM, Gillick D, Eisenstein J, and William W. Cohen (2022) Time-Aware Language Models as Temporal Knowledge Bases. Trans Association Comput Linguistics 10(March):257–273

Article  Google Scholar 

Diaz M, Johnson I, Lazar A, Piper AM, Gergle D (2018) Addressing age-related bias in sentiment analysis. Proceedings of the 2018 CHI Conference on Human Factors in Computing Systems. https://doi.org/10.1145/3173574.3173986

Article  Google Scholar 

Dunnen JTd, Dalgleish R, Maglott DR et al (2016) HGVS recommendations for the description of sequence variants: 2016 update. Human Mutation 37(6):564–569

Article  Google Scholar 

Eltorai AEM, McKinney SE, Rockenbach MABC, Karuppiah S, Bizzo BC, Andriole KP (2024) Primary care provider perspectives on the value of opportunistic CT screening. Clinical Imaging 112(110210):110210

Article  PubMed  Google Scholar 

Erikson SL (2018) Cell phones ≠ self and other problems with big data detection and containment during epidemics. Medical Anthropology Quarterly 32(3):315–339

Article  PubMed  PubMed Central  Google Scholar 

European Union (2016) Regulation (EU) 2016/679 General Data Protection Regulation (GDPR). Official Journal of the European Union. https://gdpr-info.eu/

Faye F, Crocione C et al (2024) Roberta Anido de Peña,. Time to Diagnosis and Determinants of Diagnostic Delays of People Living with a Rare Disease: Results of a Rare Barometer Retrospective Patient Survey. European Journal of Human Genetics: EJHG 32 (9): 1116–1126

Fieldhouse R (2025) Too Much Social Media Gives AI Chatbots ‘Brain Rot’. Nature ahead print October 31. https://doi.org/10.1038/d41586-025-03542-2

Forrest IS, Vy HMT, Rocheleau G et al (2025) Machine learning-based penetrance of genetic variants. Science 389(6763):eadm7066

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fowler DM, Rehm HL (2024) Will variants of uncertain significance still exist in 2030? Am J Human Genet 111(1):5–10

Article  CAS  Google Scholar 

Freed D, Pan R, Chen H, Li Z (2022) DNAscope: High Accuracy Small Variant Calling Using Machine Learning. In bioRxiv. bioRxiv. https://doi.org/10.1101/2022.05.20.492556

Article  Google Scholar 

Gao H, Hamp T, Ede J et al (2023) The Landscape of Tolerated Genetic Variation in Humans and Primates. Sci (New York N Y) 380(6648):eabn8153

Article  CAS  Google Scholar 

Genetic Information Nondiscrimination Act of 2008 (GINA (2008) Pub. L. No. Pub. L. 110–233, 42 U.S.C. § 2000ff et seq. Statutes Large Volume 122 https://www.eeoc.gov/statutes/genetic-information-nondiscrimination-act-2008

Gosiewska A, Kozak A, Biecek P (2021) Simpler is better: lifting interpretability-performance trade-off via automated feature engineering. Decision Support Systems 150(113556):113556

Article  Google Scholar 

Gurovich Y, Hanani Y, Bar O et al (2019) Identifying Facial Phenotypes of Genetic Disorders Using Deep Learning. Nat Med 25(1):60–64

Article  CAS  PubMed  Google Scholar 

Hajek C, Hutchinson AM, Galbraith LN et al (2022) Improved Provider Preparedness through an 8-Part Genetics and Genomic Education Program. Genet Med: Off J Am Coll Med Genet 24(1):214–224

Article  CAS  Google Scholar 

Houge G, Laner A, Cirak S, de Leeuw N, Hans Scheffer, and, Johan T den, Dunnen (2022) Stepwise ABC System for Classification of Any Type of Genetic Variant. European Journal of Human Genetics: EJHG 30 (2): 150–159

Houge G, Bratland E, Aukrust I et al (2024) Comparison of the ABC and ACMG Systems for Variant Classification. Eur J Hum Genetics: EJHG 32(7):858–863

Article  PubMed  Google Scholar 

Https://www.nostos-Genomics.com (2025a) AI & Variant Interpretation: From Data Tsunami to Diagnostic Clarity. https://www.nostos-genomics.com/news/ai-and-variant-interpretation-from-data-tsunami-to-diagnostic-clarity

Https://www.nostos-Genomics.com (2025b) Enhancing Rare Disease Diagnostics: Updated Performance Evaluation of the AION AI-Driven Variant Interpretation Platform. https://www.nostos-genomics.com/news/enhancing-rare-disease-diagnostics-updated-performance-evaluation-of-the-aion-ai-driven-variant-interpretation-platform

Hu X, Feng C, Zhou Y, Andrew Harrison, and, Chen M (2022) DeepTrio: A Ternary Prediction System for Protein-Protein Interaction Using Mask Multiple Parallel Convolutional Neural Networks. Bioinf (Oxford England) 38(3):694–702

CAS  Google Scholar 

Hu J, Freed D, Feng H, Chen H, Li Z, Chen H (2025) Accelerated, Accurate, Hybrid Short and Long Reads Alignment and Variant Calling. Bioinformatics No. Biorxiv;2025.04.15.648987v3. BioRxiv, April 20 https://www.biorxiv.org/content/https://doi.org/10.1101/2025.04.15.648987v3.full.pdf

Article  Google Scholar 

Emedgene Software Data Sheet. illumina, Version (2024) M-GL-01057 v2.0. https://www.illumina.com/content/dam/illumina/gcs/assembled-assets/marketing-literature/emedgene-data-sheet-m-gl-01057/emedgene-data-sheet-m-gl-01057.pdf

International Organization for Standardization, International Electrotechnical Commission (2022) ISO/IEC 27001:2022 Information Security, Cybersecurity and Privacy Protection — Information Security Management Systems — Requirements. ISO. https://www.iso.org/standard/27001

Ioannidis NM, Joseph H, Rothstein V, Pejaver et al (2016) REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. Am J Hum Genet 99(4):877–885

Article  CAS  PubMed  PubMed Central