A Conceptual Framework for Human-AI Collaborative Genome Annotation

Fuente: arXiv
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Main Authors: Li, Xiaomei, Whan, Alex, McNeil, Meredith, Starns, David, Irons, Jessica, Andrew, Samuel C., Suchecki, Rad
Format: Preprint
Published: 2025
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author Li, Xiaomei
Whan, Alex
McNeil, Meredith
Starns, David
Irons, Jessica
Andrew, Samuel C.
Suchecki, Rad
author_facet Li, Xiaomei
Whan, Alex
McNeil, Meredith
Starns, David
Irons, Jessica
Andrew, Samuel C.
Suchecki, Rad
contents Genome annotation is essential for understanding the functional elements within genomes. While automated methods are indispensable for processing large-scale genomic data, they often face challenges in accurately predicting gene structures and functions. Consequently, manual curation by domain experts remains crucial for validating and refining these predictions. These combined outcomes from automated tools and manual curation highlight the importance of integrating human expertise with AI capabilities to improve both the accuracy and efficiency of genome annotation. However, the manual curation process is inherently labor-intensive and time-consuming, making it difficult to scale for large datasets. To address these challenges, we propose a conceptual framework, Human-AI Collaborative Genome Annotation (HAICoGA), which leverages the synergistic partnership between humans and artificial intelligence to enhance human capabilities and accelerate the genome annotation process. Additionally, we explore the potential of integrating Large Language Models (LLMs) into this framework to support and augment specific tasks. Finally, we discuss emerging challenges and outline open research questions to guide further exploration in this area.
format Preprint
id arxiv_https___arxiv_org_abs_2503_23691
institution arXiv
publishDate 2025
record_format arxiv
spellingShingle A Conceptual Framework for Human-AI Collaborative Genome Annotation
Li, Xiaomei
Whan, Alex
McNeil, Meredith
Starns, David
Irons, Jessica
Andrew, Samuel C.
Suchecki, Rad
Genomics
Human-Computer Interaction
Genome annotation is essential for understanding the functional elements within genomes. While automated methods are indispensable for processing large-scale genomic data, they often face challenges in accurately predicting gene structures and functions. Consequently, manual curation by domain experts remains crucial for validating and refining these predictions. These combined outcomes from automated tools and manual curation highlight the importance of integrating human expertise with AI capabilities to improve both the accuracy and efficiency of genome annotation. However, the manual curation process is inherently labor-intensive and time-consuming, making it difficult to scale for large datasets. To address these challenges, we propose a conceptual framework, Human-AI Collaborative Genome Annotation (HAICoGA), which leverages the synergistic partnership between humans and artificial intelligence to enhance human capabilities and accelerate the genome annotation process. Additionally, we explore the potential of integrating Large Language Models (LLMs) into this framework to support and augment specific tasks. Finally, we discuss emerging challenges and outline open research questions to guide further exploration in this area.
title A Conceptual Framework for Human-AI Collaborative Genome Annotation
topic Genomics
Human-Computer Interaction
url https://arxiv.org/abs/2503.23691