则此变异越被认为是可疑的、致病的、进化过程淘汰的。这个值s(i,a)被称为pathogenic score致病性打分。
研究问题:AlphaMissense 致病性打分(pathogenicity score)能否预测 CFTR 的错义突变体的致病性? 数据来源: (1)AlphaMissense 预测结果,zenodo.org/record/83602 (2)ClinVar,ncbi.nlm.nih.gov/clinva (3)CFTR2 病例库,cftr2.org 研究背景 囊性纤维化(CF)是一种累及肺部、消化系统、汗腺和生殖道的多系统疾病。
Moreover, the quantification of VUS evidence and heatmaps weakly correlated with the AlphaMissense score. For VUS without computational evidence, incorporating AlphaMissense changed the VUS quantification for 878 variants, while 56 were reclassified as likely pathogenic. When AlphaMi...
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In this step, the absolute log2 of the FC is taken to provide a final metric, the AlphaRING score. This results in a minimum AlphaRING score of0. Therefore, higher AlphaRING scores indicate greater predicted pathogenicity. Dependencies ...
(10aap-value = 0.8926, 5 Åp-value = 0.8804) (Figure 1E,F). We then performed a Kruskal–Wallis test to compare both LDD scores between the different CHRN CMS subgroups and non-pathogenic variants, again finding no statistically significant difference for either LDD score (10aap-value =...
This variant is considered deleterious by the majority of the available in silico prediction tools (CADD score 32), and the position c.215C is highly conserved (GERP score 4.21; PhyloP 7.864; PhastCons 1; SiPhy 17.886). Frequency in public databases and in-silico pathogenicity predictions of ...
Genome-wide linkage analysis mapped a 10.9 Mb locus to chromosome 14 (14q22) with a LOD score of 7.6. Candidate gene analysis complemented by targeted next-generation sequencing identified a missense mutation (c.137GA; p.Arg46Gln) in the alpha-actinin 1 gene (ACTN1) that segregated with ...
The AM continuous pathogenicity score (roughly 0-0.35 benign, 0.36-0.55 ambiguous, 0.56-1.0 pathogenic) are claimed to have 90% accuracy based on ClinVar (based on 1,263 pathogenic and 1,263 benign variants).Methods:Here, we identified VUSs from the Oxford Sarcoma Precision Oncology real ...
这个值s(i,a)被称为pathogenic score致病性打分。 当然,这个致病性打分的标量值还不是第一阶段预训练的主要目标,蛋白质语言模型的表现也还不够好,因此还需要针对AM的主要任务做二阶段的微调。 第二阶段,AM引入致病性分类任务,训练集是来自人类和灵长类动物的基因数据弱标签。 之所以不用ClinVar之类人工注释过的...