Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods

J Thusberg, M Vihinen - Human mutation, 2009 - Wiley Online Library
Many gene defects are relatively easy to identify experimentally, but obtaining information
about the effects of sequence variations and elucidation of the detailed molecular …

Protein interactions and disease: computational approaches to uncover the etiology of diseases

MG Kann - Briefings in bioinformatics, 2007 - academic.oup.com
The genomic era has been characterised by vast amounts of data from diverse sources,
creating a need for new tools to extract biologically meaningful information. Bioinformatics is …

SNPs3D: candidate gene and SNP selection for association studies

P Yue, E Melamud, J Moult - BMC bioinformatics, 2006 - Springer
Background The relationship between disease susceptibility and genetic variation is
complex, and many different types of data are relevant. We describe a web resource and …

Impact of genetic variation on three dimensional structure and function of proteins

R Bhattacharya, PW Rose, SK Burley, A Prlić - PloS one, 2017 - journals.plos.org
The Protein Data Bank (PDB; http://wwpdb. org) was established in 1971 as the first open
access digital data resource in biology with seven protein structures as its initial holdings …

[HTML][HTML] Predicting the functional consequences of non-synonymous DNA sequence variants—evaluation of bioinformatics tools and development of a consensus …

K Frousios, CS Iliopoulos, T Schlitt, MA Simpson - Genomics, 2013 - Elsevier
The study of DNA sequence variation has been transformed by recent advances in DNA
sequencing technologies. Determination of the functional consequences of sequence …

Next generation tools for the annotation of human SNPs

R Karchin - Briefings in bioinformatics, 2009 - academic.oup.com
Computational biology has the opportunity to play an important role in the identification of
functional single nucleotide polymorphisms (SNPs) discovered in large-scale genoty** …

Free resources to assist structure-based virtual ligand screening experiments

BO Villoutreix, N Renault, D Lagorce… - Current Protein and …, 2007 - ingentaconnect.com
In today's research environment, a wealth of experimental/theoretical structural data is
available and the number of therapeutically relevant macromolecular structures is growing …

xPyder: a PyMOL plugin to analyze coupled residues and their networks in protein structures.

M Pasi, M Tiberti, A Arrigoni… - Journal of chemical …, 2012 - ACS Publications
A versatile method to directly identify and analyze short-or long-range coupled or
communicating residues in a protein conformational ensemble is of extreme relevance to …

CanProVar: a human cancer proteome variation database

J Li, DT Duncan, B Zhang - Human mutation, 2010 - Wiley Online Library
Identification and annotation of mutated genes or proteins involved in oncogenesis and
tumor progression are crucial for both cancer biology and clinical applications. We have …

Molecular dynamics-based analyses of the structural instability and secondary structure of the fibrinogen gamma chain protein with the D356V mutation

SK Ali, P Sneha, J Priyadharshini Christy… - Journal of …, 2017 - Taylor & Francis
Mutations in the fibrinogen gamma chain (FGG) gene have been associated with various
disorders, such as dysfibrinogenemia, thrombophilia, and hypofibrinogenemia. A literature …