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 …
Humanized yeast to model human biology, disease and evolution
AH Kachroo, M Vandeloo, BM Greco… - Disease models & …, 2022 - journals.biologists.com
For decades, budding yeast, a single-cellular eukaryote, has provided remarkable insights
into human biology. Yeast and humans share several thousand genes despite …
into human biology. Yeast and humans share several thousand genes despite …
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 …
Saturation variant interpretation using CRISPR prime editing
High-throughput functional characterization of genetic variants in their endogenous locus
has so far been possible only with methods that rely on homology-directed repair, which are …
has so far been possible only with methods that rely on homology-directed repair, which are …
Updated benchmarking of variant effect predictors using deep mutational scanning
BJ Livesey, JA Marsh - Molecular systems biology, 2023 - embopress.org
The assessment of variant effect predictor (VEP) performance is fraught with biases
introduced by benchmarking against clinical observations. In this study, building on our …
introduced by benchmarking against clinical observations. In this study, building on our …
[HTML][HTML] Improved pathogenicity prediction for rare human missense variants
The success of personalized genomic medicine depends on our ability to assess the
pathogenicity of rare human variants, including the important class of missense variation …
pathogenicity of rare human variants, including the important class of missense variation …
Predicting and interpreting large-scale mutagenesis data using analyses of protein stability and conservation
Understanding and predicting the functional consequences of single amino acid changes is
central in many areas of protein science. Here, we collect and analyze experimental …
central in many areas of protein science. Here, we collect and analyze experimental …
Discovering functionally important sites in proteins
Proteins play important roles in biology, biotechnology and pharmacology, and missense
variants are a common cause of disease. Discovering functionally important sites in proteins …
variants are a common cause of disease. Discovering functionally important sites in proteins …
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk
X Jia, BB Burugula, V Chen, RM Lemons… - The American Journal of …, 2021 - cell.com
The lack of functional evidence for the majority of missense variants limits their clinical
interpretability and poses a key barrier to the broad utility of carrier screening. In Lynch …
interpretability and poses a key barrier to the broad utility of carrier screening. In Lynch …