Towards precision medicine: advances in computational approaches for the analysis of human variants

TA Peterson, E Doughty, MG Kann - Journal of molecular biology, 2013 - Elsevier
Variations and similarities in our individual genomes are part of our history, our heritage,
and our identity. Some human genomic variants are associated with common traits such as …

PREvaIL, an integrative approach for inferring catalytic residues using sequence, structural, and network features in a machine-learning framework

J Song, F Li, K Takemoto, G Haffari, T Akutsu… - Journal of theoretical …, 2018 - Elsevier
Determining the catalytic residues in an enzyme is critical to our understanding the
relationship between protein sequence, structure, function, and enhancing our ability to …

A Highly Sensitive Model Based on Graph Neural Networks for Enzyme Key Catalytic Residue Prediction

X Shen, S Zhang, J Long, C Chen… - Journal of Chemical …, 2023 - ACS Publications
Determining the catalytic site of enzymes is a great help for understanding the relationship
between protein sequence, structure, and function, which provides the basis and targets for …

Computational methods for identification of functional residues in protein structures

F **n, P Radivojac - Current Protein and Peptide Science, 2011 - ingentaconnect.com
The recent accumulation of experimentally determined protein 3D structures combined with
our ability to computationally model structure from amino acid sequence has resulted in an …

The loss and gain of functional amino acid residues is a common mechanism causing human inherited disease

J Lugo-Martinez, V Pejaver, KA Pagel… - PLoS computational …, 2016 - journals.plos.org
Elucidating the precise molecular events altered by disease-causing genetic variants
represents a major challenge in translational bioinformatics. To this end, many studies have …

In silico comparative characterization of pharmacogenomic missense variants

B Li, C Seligman, J Thusberg, JL Miller, J Auer… - BMC genomics, 2014 - Springer
Abstract Background Missense pharmacogenomic (PGx) variants refer to amino acid
substitutions that potentially affect the pharmacokinetic (PK) or pharmacodynamic (PD) …

[HTML][HTML] Annotating individual human genomes

A Torkamani, AA Scott-Van Zeeland, EJ Topol… - Genomics, 2011 - Elsevier
Advances in DNA sequencing technologies have made it possible to rapidly, accurately and
affordably sequence entire individual human genomes. As impressive as this ability seems …

Quaternion maps of global protein structure

AJ Hanson, S Thakur - Journal of Molecular Graphics and Modelling, 2012 - Elsevier
The geometric structures of proteins are vital to the understanding of biochemical
interactions. However, there is much yet to be understood about the spatial arrangements of …

CRHunter: integrating multifaceted information to predict catalytic residues in enzymes

J Sun, J Wang, D **ong, J Hu, R Liu - Scientific Reports, 2016 - nature.com
A variety of algorithms have been developed for catalytic residue prediction based on either
feature-or template-based methodology. However, no studies have systematically compared …

Generalized graphlet kernels for probabilistic inference in sparse graphs

J Lugo-Martinez, P Radivojac - Network Science, 2014 - cambridge.org
Graph kernels for learning and inference on sparse graphs have been widely studied.
However, the problem of designing robust kernel functions that can effectively compare …