安裝中文字典英文字典辭典工具!
安裝中文字典英文字典辭典工具!
|
- Accurate proteome-wide missense variant effect prediction with . . .
We fine-tuned AlphaFold on human and primate variant population frequency data and calibrated the confidence on known disease variants AlphaMissense predicts the probability of a missense variant being pathogenic and classifies it as either likely benign, likely pathogenic, or uncertain
- Accurate proteome-wide missense variant effect prediction with . . .
present AlphaMissense, an adaptation of AlphaFold fine-tuned on human and primate variant population frequency databases to predict missense variant pa thogenicity By combining structural context and evolutionary conservation, our model achieves state-of-the-art results across a wide range of genetic and
- Predicting pathogenic protein variants | Science - AAAS
AlphaMissense predicts the effects of variants by building on the AlphaFold algorithm that predicts protein structures from gene sequences
- Contents | Science 381, 6664 - AAAS
The vast majority of missense variants observed in the human genome are of unknown clinical significance We present AlphaMissense, an adaptation of AlphaFold fine-tuned on human and primate variant population frequency databases to predict missense
- Predicting pathogenic protein variants - AAAS
AlphaMissense predicts the effect of variants by building the AlphaFold algorithm that predicts protei structures from gene sequences 0922Perspectives_17791568 i 1285 9 15 4: PM
- Supplementary Materials for - Science | AAAS
Accurate proteome-wide missense variant effect prediction with AlphaMissense Jun Cheng et al Corresponding authors: Jun Cheng, jucheng@google com; Pushmeet Kohli, pushmeet@google com; Žiga Avsec, avsec@google com Science 381, eadg7492 (2023) DOI: 10 1126 science adg7492 The PDF file includes: Supplementary Note Materials and Methods
- Phenome-wide identification of therapeutic genetic targets . . . - AAAS
We observe that across all three resources, the correlation of pathogenicity is higher with AlphaMissense than it is with RVIS (fig S37D) Correlations were obtained after log-transforming AlphaMissense and Mantis-ML’s pathogenicity scores
- Molecular mechanisms linking missense ACTG2 mutations to . . . - Science
Mutations of residues R40, R148, R178, and R257 were selected for this study based on their prevalence, collectively accounting for over 70% of reported dominant missense ACTG2 mutations linked to VM () Particularly, residue R257 is the most frequently mutated in VM, accounting for 33% of reported cases
|
|
|