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Article

HTAADVar: Aggregation and fully automated clinical interpretation of genetic variants in heritable thoracic aortic aneurysm and dissection.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2022

Zhou Wei-Zhen, Zhang Yujing, Zhu Guoyan, Shen Huayan, Zeng Qingyi, Chen Qianlong, Li Wenke, Luo Mingyao, Shu Chang, Yang Hang, Zhou Zhou

Abstract excerpt

PURPOSE: Early detection and pathogenicity interpretation of disease-associated variants are crucial but challenging in molecular diagnosis, especially for insidious and life-threatening diseases, such as heritable thoracic aortic aneurysm and dissection (HTAAD). In this study, we developed HTAADVar, an unbiased and fully automated system for the molecular diagnosis of HTAAD. METHODS: We developed HTAADVar...

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Share to Aortic Aneurysm, Thoracic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 36194209
DOI: 10.1016/j.gim.2022.08.024

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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