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Article

Artificial intelligence-based recognition for variant pathogenicity of BRCA1 using AlphaFold2-predicted structures.

Theranostics - 1 Jan 2023

Li Chang, Zhang Lili, Zhuo Zhongling, Su Fei, Li Hexin, Xu Siyuan, Liu Ye, Zhang Zaifeng, Xie Yibo, Yu Xue, Bian Liheng, Xiao Fei

Abstract excerpt

With the surge of the high-throughput sequencing technologies, many genetic variants have been identified in the past decade. The vast majority of these variants are defined as variants of uncertain significance (VUS), as their significance to the function or health of an organism is not known. It is urgently needed to develop intelligent models for the clinical interpretation of VUS. State-of-the-art artificial...

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Identifiers

PMID: 36593954
DOI: 10.7150/thno.79362
PMCID: PMC9800725

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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