A genetic disorder is a disease caused by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene, by mutations in multiple genes, by a combination of gene mutations and environmental factors, or by damage to chromosomes.
A gene is the basic physical and functional unit of heredity. Genes are made up of DNA. Some genes act as instructions to make molecules called proteins. However, many genes do not code for proteins.
A genetic alteration in which a single base pair substitution alters the genetic code in a way that produces an amino acid that is different from the usual amino acid at that position. Some missense variants (or mutations) will alter the function of the protein. Also called missense mutation.
Linux is an operating system that almost everyone who deals with data uses. Instead of using Windows or MacOS, Linux can be used to manage files, manipulate data, and send data to an environment like R for analysis.
A guide that applies linux commands to biology can be accessed here.
Homology modeling is one of the computational structure prediction methods that are used to determine protein 3D structure from its amino acid sequence. It is considered to be the most accurate of the computational structure prediction methods.
Identifying rare disease-causing SNVs remains challenging, and often requires functional in vitro studies. Prioritizing the most likely pathogenic SNVs is of utmost importance, and several computational methods have been developed for this purpose.
PolyPhen-2 is the possible impact of an amino acid substitution on the structure and function at PolyPhen-2.
Molecular dynamics simulations predict how every atom in a protein will move over time, based on a general model of the physics governing interatomic interactions. Simulations can predict how biomolecules will respond—at an atomic level—to perturbations such as mutations. Read more.