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主动学习框架提高肿瘤变异解读准确性。

An Active Learning Framework Improves Tumor Variant Interpretation.

机构信息

Department of Biochemistry and Center for Structural Biology, Vanderbilt University, Nashville, Tennessee.

Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.

出版信息

Cancer Res. 2022 Aug 3;82(15):2704-2715. doi: 10.1158/0008-5472.CAN-21-3798.

Abstract

A novel machine learning approach predicts the impact of tumor mutations on cellular phenotypes, overcomes limited training data, minimizes costly functional validation, and advances efforts to implement cancer precision medicine.

摘要

一种新的机器学习方法可以预测肿瘤突变对细胞表型的影响,克服了有限的训练数据,最大限度地减少了昂贵的功能验证,并推进了实施癌症精准医学的努力。

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本文引用的文献

1
From variant to function in human disease genetics.
Science. 2021 Sep 24;373(6562):1464-1468. doi: 10.1126/science.abi8207. Epub 2021 Sep 23.
2
Large-scale preparation of fluorescence multiplex host cell reactivation (FM-HCR) reporters.
Nat Protoc. 2021 Sep;16(9):4265-4298. doi: 10.1038/s41596-021-00577-3. Epub 2021 Aug 6.
3
Massively parallel characterization of CYP2C9 variant enzyme activity and abundance.
Am J Hum Genet. 2021 Sep 2;108(9):1735-1751. doi: 10.1016/j.ajhg.2021.07.001. Epub 2021 Jul 26.
4
Highly accurate protein structure prediction with AlphaFold.
Nature. 2021 Aug;596(7873):583-589. doi: 10.1038/s41586-021-03819-2. Epub 2021 Jul 15.
5
7
Strategic vision for improving human health at The Forefront of Genomics.
Nature. 2020 Oct;586(7831):683-692. doi: 10.1038/s41586-020-2817-4. Epub 2020 Oct 28.
8
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants.
Proc Natl Acad Sci U S A. 2020 Nov 10;117(45):28201-28211. doi: 10.1073/pnas.2002660117. Epub 2020 Oct 26.
9
Massively parallel variant characterization identifies alleles associated with thiopurine toxicity.
Proc Natl Acad Sci U S A. 2020 Mar 10;117(10):5394-5401. doi: 10.1073/pnas.1915680117. Epub 2020 Feb 24.

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