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Updated: Sep 12, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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varCADD:大量的常态遗传变异使全基因组病原性预测成为可能

Lusiné Nazaretyan1, Philipp Rentzsch1,2, Martin Kircher3,4

  • 1Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, 10117, Germany.

Genome medicine
|August 4, 2025
PubMed
概括

来自人类站立变异的新数据集改善了用于遗传变异优先级的机器学习模型. 这些更大,更不偏的数据集提高了准确性,特别是在具有挑战性的基因组区域,推进了遗传研究.

关键词:
数据偏差数据偏差常设变化的变化.培训数据 培训数据变量效应预测变量效应的预测.变体优先级的排序方式

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