Illumina首席技术官Mostafa Ronaghi表示:“软件的开源发布表明Illumina不仅致力于成为全球最大的DNA测序数据推动者,同时还大力推广AI工具,让临床医生和研究人员能够同步跟进基因组数据的深度和广度。” Illumina团队与加州大学旧金山分校和斯坦福大学的合作者共同开发了SpliceAI,这是一个先进的深度神经网络,用于发现自闭症和智力...
git clone https://github.com/Illumina/SpliceAI.gitcdSpliceAI python setup.py install SpliceAI requirestensorflow>=1.2.0, which is best installed separately via pip or conda (see theTensorFlowwebsite for other installation options): pip install tensorflow#orconda install tensorflow ...
SameCodon.pm SingleLetterAA.pm SpliceAI.pm SpliceRegion.pm StructuralVariantOverlap.pm SubsetVCF.pm TSSDistance.pm dbNSFP.pm dbNSFP_replacement_logic dbscSNV.pm gnomADc.pm miRNA.pm plugin_config.txt satMutMPRA.pm Breadcrumbs VEP_plugins /
SpliceAI算法是一款基于32个卷积的深度神经网络的软件,可从mRNA前体序列对剪接位点进行准确预测,预测信息包括剪接位点的位置及异常的概率。实际工作中,可采用类似的软件辅助剪接变异的识别。 (4)挖掘更多TECTA基因有害同义变异 本实验室在该...
SpliceAI is an open-source deep learning splicing prediction algorithm that has demonstrated in the past few years its high ability to predict splicing defects caused by DNA variations. However, its outputs present several drawbacks: (1) although the num
Human Genomics (2023) 17:7 https://doi.org/10.1186/s40246-023-00451-1 Human Genomics PERSPECTIVE Open Access SpliceAI‑visual: a free online tool to improve SpliceAI splicing variant interpretation Jean‑Madeleine de Sainte Agathe1,2*, Mathilde Filser1, Bertrand Isidor3, ...
Plugins for the Ensembl Variant Effect Predictor (VEP) - VEP_plugins/SpliceAI.pm at release/107 · Ensembl/VEP_plugins
The masking behavior of the donor/acceptor gain scores seems inconsistent, the same as in #58 Either both of them should be masked or neither of them. This appears to be a common bug for spliceai gain scores whose positions fall on the last base of an exon. I haven't yet tracked it ...
For us, it is very important to understand (as much as possible) the tools we use. Sorry if this is not a SpliceAI-lookup question. By the way, our local version is working very well since installed. Thank you so much! bw2mentioned this issueNov 17, 2023...