We developed a modular modeling framework, MMSplice, the performance of which was among the best on both challenges. Here we provide insights into the modeling assumptions of MMSplice and its individual modules. We furthermore illustrate how MMSplice can be applied in practice for individual ...
pip install mmsplice Preparation 1. Prepare annotation (gtf) file Standard human gene annotation file in GTF format can be downloaded from ensembl or gencode. MMSplice can work directly with those files, however, some filtering is higly recommended. Filter for protein coding genes. Filter out du...
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We furthermore illustrate how MMSplice can be applied in practice for individual genome interpretation, using the MMSplice VEP plugin and the Kipoi variant interpretation plugin, which are directly applicable to VCF files. 展开 关键词: artificial neural network splicing variant effect variant ...
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