Article

Towards predictive biophysical and mechanistic models for disease-causing protein variants

2018-11-24

Abstract excerpt

The rapid decrease in DNA sequencing cost is revolutionizing medicine and science. In medicine, genome sequencing has revealed millions of missense variants that change protein sequences, yet we only understand the molecular and phenotypic consequences of a small fraction. Within protein science, high-throughput deep mutational scanning experiments enable us to probe thousands of mutations in a single, multiplexed...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b8a8d66d-c66d-523d-953c-107bba426842
DOI: 10.7287/peerj.preprints.27379v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Towards predictive biophysical and mechanistic models for disease-causing protein variantsDOI 10.7287/peerj.preprints.27379v1Read

Predicting and interpreting large-scale mutagenesis data using analyses of protein stability and conservation.Semantic proximity Read

Interpreting the molecular mechanisms of disease variants in human transmembrane proteinsSemantic proximity Read

Decoding molecular mechanisms for loss-of-function variants in the human proteomeSemantic proximity Read

Functionally constrained human proteins are less prone to mutational instability caused by single amino acid substitutionsSemantic proximity Read

Protein structural context of cancer mutations reveals molecular mechanisms and candidate driver genes.Semantic proximity Read

News from the protein mutability landscape.Semantic proximity Read

Mechanistic Mutational Scanning to Uncover the Secret Life of Proteins.Semantic proximity Read

Site saturation mutagenesis of 500 human protein domains reveals the contribution of protein destabilization to genetic diseaseSemantic proximity Read

Burden analysis of missense variants in 1,330 disease-associated genes on 3D provides insights into the mutation effectsSemantic proximity Read

Molecular mechanisms of disease-causing missense mutations.Semantic proximity Read

Mutation-induced biophysical destabilization as a key contributor to cancer-driving potential in the human structural protein interactomeSemantic proximity Read

Correspondence between functional scores from deep mutational scans and predicted effects on protein stabilitySemantic proximity Read