AI is revolutionizing DNA-focused fields—from speeding up sequencing to advancing the medical field and even designing synthetic genetic elements.
Smarter Sequencing & Error Reduction
AI is making DNA sequencing faster and more accurate:
- AI accelerates variant calling, epigenomic analysis, transcriptomics, and single-cell RNA sequencing—improving pipelines across next-generation sequencing (NGS) workflows. Methods like CNNs and RNNs outperform traditional approaches.
- Cambridge researchers showed that AI applied to exome data can detect disease‑causing copy‑number variants that might otherwise go unnoticed.
Predicting Mutation Impact with Precision
- AI tools have identified “dark genome” repetitive elements previously labeled as “junk DNA,” revealing links to cancer development and offering new biomarker potential.
Generative AI: Designing Functional DNA Sequences
- A Barcelona-based team used generative AI to engineer synthetic enhancers—DNA elements that control gene expression. These artificial sequences may become powerful tools in gene therapy.
- At Yale, another AI platform designed novel DNA sequences capable of turning genes on or off—pushing the frontier in synthetic biology and therapeutic innovation.
Pounraja, Vijay Kumar; Gopal Jayakar; Matthew Jensen; Neil Kelkar; Santhosh Girirajan. “A Machine-Learning Approach for Accurate Detection of Copy Number Variants from Exome Sequencing.” Genome Research 29, no. 7 (2019): 1134-1143. Accessed August 12, 2025. https://doi.org/10.1101/gr.245928.118. Penn State
“AI Can Improve DNA Analysis, Eliminating Need for Additional Test.” Genomics Education Programme, NHS Health Education England. Accessed August 12, 2025. https://www.genomicseducation.hee.nhs.uk/blog/ai-can-improve-dna-analysis-eliminating-need-for-additional-test/. Genomics Education Programme
“DeepCNV: a deep learning approach for authenticating copy number variations.” PMC (Public Library of Science).” Accessed August 12, 2025. https://pmc.ncbi.nlm.nih.gov/articles/PMC8681111/. PMC
“AI-designed DNA controls genes in healthy mammalian cells for first time.” ScienceDaily. May 8, 2025. Accessed August 12, 2025. https://www.sciencedaily.com/releases/2025/05/250508112324.htm. ScienceDaily
“AI Designed DNA Sequences Modulate Cell Differentiation for Gene Therapy Applications.” Genetic Engineering & Biotechnology News. May 8, 2025. Accessed August 12, 2025. https://www.genengnews.com/topics/artificial-intelligence/ai-designed-dna-sequences-modulate-cell-differentiation-for-gene-therapy-applications/. GEN
Canva. AI-Generated Image: “Laboratory, woman, dna.” Created with Canva AI, August 12, 2025. https://www.canva.com
South Central Chapter, Association of Professional Genealogists 