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Scalable functional assays for the interpretation of human genetic variation
Scalable sequence–function studies have enabled the systematic analysis and cataloging of
hundreds of thousands of coding and noncoding genetic variants in the human genome …
hundreds of thousands of coding and noncoding genetic variants in the human genome …
Benchmarking computational variant effect predictors by their ability to infer human traits
Background Computational variant effect predictors offer a scalable and increasingly
reliable means of interpreting human genetic variation, but concerns of circularity and bias …
reliable means of interpreting human genetic variation, but concerns of circularity and bias …
Simultaneous enhancement of multiple functional properties using evolution-informed protein design
A major challenge in protein design is to augment existing functional proteins with multiple
property enhancements. Altering several properties likely necessitates numerous primary …
property enhancements. Altering several properties likely necessitates numerous primary …
Reducing uncertainty in genetic testing with Saturation Genome Editing
P Dace, GM Findlay - Medizinische Genetik, 2022 - degruyter.com
Accurate interpretation of human genetic data is critical for optimizing outcomes in the era of
genomic medicine. Powerful methods for testing genetic variants for functional effects are …
genomic medicine. Powerful methods for testing genetic variants for functional effects are …
An Analysis of Machine Learning Approaches to Classify the Pathogenicity of Single Nucleotide Polymorphisms
G Popoola - 2024 - dash.harvard.edu
Given the vast number of disorders that originate from mutations in DNA, the problem of
distinguishing between those that are causative of disease (ie are “pathogenic”) and those …
distinguishing between those that are causative of disease (ie are “pathogenic”) and those …