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Language is a unique communication system that uses words and systematic rules to organize and transmit information. Unlike other forms of communication, which may involve postures, movements, odors, or vocalizations, language relies on symbols and grammar. This makes human communication distinct from that of other species, who also communicate but do not use language in the same way humans do.
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Related Experiment Video

Updated: Feb 10, 2026

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Genetic Diagnosis and Discovery Enabled by Large Language Models.

Tao Tu¹, Khaled Saab¹, Weida Liu²

¹Google DeepMind, Mountain View, California, USA.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

|February 8, 2026

Summary

Large language models (LLMs) like Med-PaLM 2 and Gemini can accelerate genetic diagnosis and discovery. These AI tools successfully identified genetic factors in mice and humans, aiding in diagnosing rare diseases.

Keywords:

artificial intelligence genetic discovery large language model

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Area of Science:

Genomics
Artificial Intelligence
Medical Diagnostics

Background:

Artificial intelligence (AI) and large language models (LLMs) show promise in clinical applications.
The potential of LLMs to expedite genetic diagnosis and discovery remains largely unexplored.

Purpose of the Study:

To evaluate the capability of LLMs (Med-PaLM 2 and Gemini) in accelerating genetic diagnosis and discovery.
To assess LLM performance across a spectrum of genetic problem complexities.

Main Methods:

Med-PaLM 2 processed free-text input to identify causative murine genes for biomedical traits.
A retrieval and grounding pipeline was developed for Gemini 2.5 Pro to analyze gene lists and identify causative factors in human hearing loss.
Gemini 2.5 Pro was adapted to identify genetic factors for rare diseases based on complex symptom descriptions.

Main Results:

Med-PaLM 2 accurately identified known murine genetic factors and a novel factor for hearing loss.
Gemini 2.5 Pro successfully assisted in identifying causative genetic factors for human hearing loss and rare genetic diseases.
The AI pipeline demonstrated efficacy in both murine and human genetic analyses.

Conclusions:

LLMs can significantly facilitate genetic diagnosis and discovery in both animal models and human subjects.
AI-driven pipelines show potential for improving the efficiency of identifying genetic causes of diseases.