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Advancing Prediction of Pathogenicity of Familial Hypercholesterolemia LDL Receptor Commonest Variants With Machine Learning Models.

作者信息

Santos Raul D

机构信息

Heart Institute (InCor) University of São Paulo, São Paulo, Brazil.

Hospital Israelita Albert Einstein, São Paulo, Brazil.

出版信息

JACC Basic Transl Sci. 2021 Nov 22;6(11):828-830. doi: 10.1016/j.jacbts.2021.10.008. eCollection 2021 Nov.

DOI:10.1016/j.jacbts.2021.10.008
PMID:34869945
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8617596/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e07/8617596/545c9986a6d2/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e07/8617596/545c9986a6d2/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e07/8617596/545c9986a6d2/fx1.jpg

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本文引用的文献

1
MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of Missense Variants.MLb-LDLr：一种预测错义变异致病性的机器学习模型。
JACC Basic Transl Sci. 2021 Nov 22;6(11):815-827. doi: 10.1016/j.jacbts.2021.08.009. eCollection 2021 Nov.
2
ClinVar database of global familial hypercholesterolemia-associated DNA variants.ClinVar 数据库中的全球家族性高胆固醇血症相关 DNA 变异。
Hum Mutat. 2018 Nov;39(11):1631-1640. doi: 10.1002/humu.23634.
3
Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.
马来西亚人群家族性高胆固醇血症的遗传谱：应用靶向下一代测序技术鉴定致病性基因突变。
Int J Mol Sci. 2022 Nov 29;23(23):14971. doi: 10.3390/ijms232314971.
4
Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.鉴定新拷贝数变异并用 NGS 面板数据的 CNV 检测工具评估波兰家族性高胆固醇血症患者
Genes (Basel). 2022 Aug 10;13(8):1424. doi: 10.3390/genes13081424.
5
Advancing Prediction of Risk of Intraoperative Massive Blood Transfusion in Liver Transplantation With Machine Learning Models. A Multicenter Retrospective Study.利用机器学习模型推进肝移植术中大量输血风险预测。一项多中心回顾性研究。
Front Neuroinform. 2022 May 13;16:893452. doi: 10.3389/fninf.2022.893452. eCollection 2022.
家族性高胆固醇血症的临床基因检测：美国心脏病学会科学专家组。
J Am Coll Cardiol. 2018 Aug 7;72(6):662-680. doi: 10.1016/j.jacc.2018.05.044.
4
Familial hypercholesterolaemia.家族性高胆固醇血症。
Nat Rev Dis Primers. 2017 Dec 7;3:17093. doi: 10.1038/nrdp.2017.93.
5
Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.低密度脂蛋白受体突变分析在家族性高胆固醇血症诊断中的应用
Curr Opin Lipidol. 2017 Apr;28(2):120-129. doi: 10.1097/MOL.0000000000000404.