Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Harnessing artificial intelligence for genomic variant prediction: advances, challenges, and future directions.

GigaScience - 21 Jan 2026

Pakpahan Indah, Sihombing Mentari, Liu Haohan, Wang Mengyao, Su Zheng, Fang Mingyan

Abstract excerpt

Accurate genetic variant interpretation is crucial for disease research and the development of targeted therapies. Artificial intelligence is transforming this field by integrating computational methodologies across structural biology, evolutionary analysis, and multimodal genomic data. This review examines the evolution from traditional rule-based systems and statistical models to contemporary machine learning,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Artificial Intelligence
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genomics

Source

Open in PubMed Open full text

Identifiers

PMID: 41518203
DOI: 10.1093/gigascience/giag004
PMCID: PMC12888390

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Harnessing artificial intelligence for genomic variant prediction: advances, challenges, and future directions.PMID 41518203Read ↗

AI in variant analysis: fast track to genetic diagnoses.Semantic proximity Read ↗

AI in Variant Analysis: Fast Track to Genetic DiagnosesSemantic proximity Read ↗

AI in Variant Analysis: Fast Track to Genetic DiagnosesSemantic proximity Read ↗

Artificial Intelligence and Genomic Data Analysis: New Frontiers in Precision MedicineSemantic proximity Read ↗

From genomics to clinic: the transformative impact of AI in pharmacogenomics and personalized medicine.Semantic proximity Read ↗

Gene-specific artificial intelligence-based variant classification engine: results of a time-capsule experimentSemantic proximity Read ↗

Toward Clinical Implementation of Next-Generation Sequencing-Based Genetic Testing in Rare Diseases: Where Are We?Semantic proximity Read ↗

The impact of systematized generation, evaluation, and incorporation of machine learning algorithms for clinical variant classificationSemantic proximity Read ↗

Artificial Intelligence in Human GeneticsSemantic proximity Read ↗

Clinical Variant Databases and Machine Learning Prediction Supporting Genomic Medicine.Semantic proximity Read ↗

Using Artificial Intelligence (AI) to Model Clinical Variant Reporting for Next Generation Sequencing (NGS) Oncology AssaysSemantic proximity Read ↗

Illuminating the Noncoding Genome in Cancer Using Artificial Intelligence.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.