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 ...
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, ...
curl -X "POST" "http://127.0.0.1:5001/spliceai/api/v1/get_bulk_delta_scores/" \ -H 'Content-Type: application/json' \ -H 'Accept: application/json' \ -d $'{ "annotation": "grch38", "mask": 0, "distance": 50, "variants": [ { "chrom": "21", "pos": 32657714, "alt"...
该同义变异位于TECTA基因第10号外显子内部(非最后一位碱基),gnomAD数据库中显示其频率极低(0.00437%),SpliceAI预测该同义变异可能会影响mRNA剪接,提示其可能是有害变异(表2)。 (2)听力学评估结果 为明确患儿听力损失的具体特征,患儿至...
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_api tests .dockerignore .gitignore Dockerfile README.md copy_small_fasta.sh docker-compose-nginx.yml docker-compose-system-tests.yml docker-compose.yml pytest.ini requirements-dev.txt requirements.txt run-system-tests.shBreadcrumbs SpliceAIAPI / nginx/ Directory actions More optionsLatest...
Plugins for the Ensembl Variant Effect Predictor (VEP) - VEP_plugins/SpliceAI.pm at release/107 · Ensembl/VEP_plugins
Executing the annotation pipeline after the introduction of #54, I get an error regarding environment_spliceai_rocksdb.yaml: - pip: - git+https://github.com/gagneurlab/spliceai_rocksdb.git@0.0.1 pip can't access the correct version. Remo...
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 ...