Biomedical Genomics
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Harnessing the power of large genome-size and population data to reveal the complex nature of disease processes.
Items in this Collection
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VEP predictions for ClinVar and gnomAD variants
Variant effect predictions and DMS data for ClinVar and gnomAD variants in BRCA1, P53, CALM1, PTEN, HRAS and TPK1. -
Variant effect predictions for human, yeast, bacterial and viral proteins
Variant effect predictions made by DEOGEN2, Envision, FATHMM, Fathmm-MKL, FathmmXF, MPC, MutationTaster, MutPred, NetDiseaseSNP, PhD_SNP, PolyPhen2 (HumDiv and HumVar), PonPS, PonP2, PrimateAI, S3D-PROF, SNAP2, SNPs&GO, ... -
Supplementary data to "Ligand binding site structure shapes folding, assembly and degradation of homomeric protein complexes" by G. Abrusan and J.A. Marsh
The structure of ligand binding sites has profound consequences for the evolution of function of protein complexes, particularly in homomers. Homomers with multichain binding sites (MBS) are characterized with more conserved ... -
Supplementary data to "Ligand binding site structure shapes allosteric signal transduction and the evolution of allostery in protein complexes" by G. Abrusan and J.A. Marsh
The structure of ligand binding sites has been shown to profoundly influence the evolution of function in homomeric protein complexes. Complexes with multi-chain binding sites (MBSs) have more conserved quaternary structure, ... -
Supplementary files for study on modeling DSB with random forests
Structural variants (SVs) are known to play important roles in a variety of cancers, but their origins and functional consequences are still poorly understood. The nonrandom distributions of these variants across tumour ... -
Supplementary data to "Ligand binding site structure influences the evolution of protein complex function and topology" by G. Abrusan and J.A. Marsh
It has been suggested that the evolution of protein complexes is significantly influenced by stochastic, non-adaptive processes. Using ligand binding as a proxy of function, we show that the structure of ligand-binding ... -
Code and datasets for structural analyses in Natan et al, "Assembly in the translation milieu imposes evolutionary constraints on homomeric proteins"
This contains datasets and Perl scripts needed to reproduce the figures in Natan et al "Assembly in the translation milieu imposes evolutionary constraints on homomeric proteins". Specifically, it can be used to calculate ...
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