Structural and functional prediction, evaluation, and validation in the post-sequencing era

Autor: Chang Li, Yixuan Luo, Yibo Xie, Zaifeng Zhang, Ye Liu, Lihui Zou, Fei Xiao
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 446-451 (2024)
Druh dokumentu: article
ISSN: 2001-0370
DOI: 10.1016/j.csbj.2023.12.031
Popis: The surge of genome sequencing data has underlined substantial genetic variants of uncertain significance (VUS). The decryption of VUS discovered by sequencing poses a major challenge in the post-sequencing era. Although experimental assays have progressed in classifying VUS, only a tiny fraction of the human genes have been explored experimentally. Thus, it is urgently needed to generate state-of-the-art functional predictors of VUS in silico. Artificial intelligence (AI) is an invaluable tool to assist in the identification of VUS with high efficiency and accuracy. An increasing number of studies indicate that AI has brought an exciting acceleration in the interpretation of VUS, and our group has already used AI to develop protein structure-based prediction models. In this review, we provide an overview of the previous research on AI-based prediction of missense variants, and elucidate the challenges and opportunities for protein structure-based variant prediction in the post-sequencing era.
Databáze: Directory of Open Access Journals