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Neoantigens: promising targets for cancer therapy
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Advancing from statistical associations of complex traits with genetic markers to
understanding the functional genetic variants that influence traits is often a complex process …
understanding the functional genetic variants that influence traits is often a complex process …
Accurate proteome-wide missense variant effect prediction with AlphaMissense
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 …
clinical significance. We present AlphaMissense, an adaptation of AlphaFold fine-tuned on …
Proteingym: Large-scale benchmarks for protein fitness prediction and design
Predicting the effects of mutations in proteins is critical to many applications, from
understanding genetic disease to designing novel proteins to address our most pressing …
understanding genetic disease to designing novel proteins to address our most pressing …
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
Summary Recommendations from the American College of Medical Genetics and Genomics
and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence variants …
and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence variants …
Disease variant prediction with deep generative models of evolutionary data
Quantifying the pathogenicity of protein variants in human disease-related genes would
have a marked effect on clinical decisions, yet the overwhelming majority (over 98%) of …
have a marked effect on clinical decisions, yet the overwhelming majority (over 98%) of …
Rare variant associations with plasma protein levels in the UK Biobank
Integrating human genomics and proteomics can help elucidate disease mechanisms,
identify clinical biomarkers and discover drug targets,,–. Because previous proteogenomic …
identify clinical biomarkers and discover drug targets,,–. Because previous proteogenomic …
Language models enable zero-shot prediction of the effects of mutations on protein function
Modeling the effect of sequence variation on function is a fundamental problem for
understanding and designing proteins. Since evolution encodes information about function …
understanding and designing proteins. Since evolution encodes information about function …
The genomic landscape of pediatric acute lymphoblastic leukemia
Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Here, using
whole-genome, exome and transcriptome sequencing of 2,754 childhood patients with ALL …
whole-genome, exome and transcriptome sequencing of 2,754 childhood patients with ALL …
Rare variant contribution to human disease in 281,104 UK Biobank exomes
Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …
associated with human disease, but the contribution of rare variants to common disease …