Scalable functional assays for the interpretation of human genetic variation

D Tabet, V Parikh, P Mali, FP Roth… - Annual Review of …, 2022 - annualreviews.org
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 …

Benchmarking computational variant effect predictors by their ability to infer human traits

DR Tabet, D Kuang, MC Lancaster, R Li, K Liu, J Weile… - Genome Biology, 2024 - Springer
Background Computational variant effect predictors offer a scalable and increasingly
reliable means of interpreting human genetic variation, but concerns of circularity and bias …

Simultaneous enhancement of multiple functional properties using evolution-informed protein design

B Fram, Y Su, I Truebridge, AJ Riesselman… - Nature …, 2024 - nature.com
A major challenge in protein design is to augment existing functional proteins with multiple
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 …

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 …