Version 1
: Received: 16 November 2023 / Approved: 17 November 2023 / Online: 17 November 2023 (05:24:56 CET)
How to cite:
De Paoli, F.; Berardelli, S.; Rizzo, E.; Limongelli, I.; Zucca, S. VarChat: The Generative AI Assistant for the Interpretation of Human Genomic Variations. Preprints2023, 2023111130. https://doi.org/10.20944/preprints202311.1130.v1
De Paoli, F.; Berardelli, S.; Rizzo, E.; Limongelli, I.; Zucca, S. VarChat: The Generative AI Assistant for the Interpretation of Human Genomic Variations. Preprints 2023, 2023111130. https://doi.org/10.20944/preprints202311.1130.v1
De Paoli, F.; Berardelli, S.; Rizzo, E.; Limongelli, I.; Zucca, S. VarChat: The Generative AI Assistant for the Interpretation of Human Genomic Variations. Preprints2023, 2023111130. https://doi.org/10.20944/preprints202311.1130.v1
APA Style
De Paoli, F., Berardelli, S., Rizzo, E., Limongelli, I., & Zucca, S. (2023). VarChat: The Generative AI Assistant for the Interpretation of Human Genomic Variations. Preprints. https://doi.org/10.20944/preprints202311.1130.v1
Chicago/Turabian Style
De Paoli, F., Ivan Limongelli and Susanna Zucca. 2023 "VarChat: The Generative AI Assistant for the Interpretation of Human Genomic Variations" Preprints. https://doi.org/10.20944/preprints202311.1130.v1
Abstract
In the modern era of genomic research, the scientific community is witnessing an explosive growth in the volume of published findings. While this abundance of data offers invaluable insights, it also places a pressing responsibility on genetic professionals and researchers to stay informed about the latest findings and their clinical significance. Genomic variant interpretation is currently facing a challenge in identifying the most up-to-date and relevant scientific papers, while also extracting meaningful information to accelerate the process from clinical assessment to reporting. Computer-aided literature search and summarization can play a pivotal role in this context. By synthesizing complex genomic findings into concise, interpretable summaries, this approach facilitates the translation of extensive genomic datasets into clinically relevant insights. To bridge this gap, we present VarChat (varchat.engenome.com), an innovative tool based on generative AI, developed to find and summarize the fragmented scientific literature associated with genomic variants into brief yet informative texts.VarChat provides users with a concise description of specific genetic variants, detailing their impact on related proteins and possible effects on human health. Additionally, VarChat offers direct links to related scientific trustable sources, and encourages deeper research. Availability: VarChat is freely available at varchat.engenome.com
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
