[HTML][HTML] A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
Decoding disease: from genomes to networks to phenotypes
AK Wong, RSG Sealfon, CL Theesfeld… - Nature Reviews …, 2021 - nature.com
Interpreting the effects of genetic variants is key to understanding individual susceptibility to
disease and designing personalized therapeutic approaches. Modern experimental …
disease and designing personalized therapeutic approaches. Modern experimental …
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 …
[HTML][HTML] Genome-wide prediction of disease variant effects with a deep protein language model
Predicting the effects of coding variants is a major challenge. While recent deep-learning
models have improved variant effect prediction accuracy, they cannot analyze all coding …
models have improved variant effect prediction accuracy, they cannot analyze all coding …
[HTML][HTML] An Atlas of Variant Effects to understand the genome at nucleotide resolution
Sequencing has revealed hundreds of millions of human genetic variants, and continued
efforts will only add to this variant avalanche. Insufficient information exists to interpret the …
efforts will only add to this variant avalanche. Insufficient information exists to interpret the …
Deep-learning-enabled protein–protein interaction analysis for prediction of SARS-CoV-2 infectivity and variant evolution
G Wang, X Liu, K Wang, Y Gao, G Li… - Nature Medicine, 2023 - nature.com
Host–pathogen interactions and pathogen evolution are underpinned by protein–protein
interactions between viral and host proteins. An understanding of how viral variants affect …
interactions between viral and host proteins. An understanding of how viral variants affect …
[PDF][PDF] 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 …
[PDF][PDF] 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 …
[HTML][HTML] Embeddings from protein language models predict conservation and variant effects
The emergence of SARS-CoV-2 variants stressed the demand for tools allowing to interpret
the effect of single amino acid variants (SAVs) on protein function. While Deep Mutational …
the effect of single amino acid variants (SAVs) on protein function. While Deep Mutational …
Neural networks to learn protein sequence–function relationships from deep mutational scanning data
S Gelman, SA Fahlberg… - Proceedings of the …, 2021 - National Acad Sciences
The mapping from protein sequence to function is highly complex, making it challenging to
predict how sequence changes will affect a protein's behavior and properties. We present a …
predict how sequence changes will affect a protein's behavior and properties. We present a …