Glossary Term
Translocation
The movement of a physical object from one place to another. (NCI)
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Glossary Term
The movement of a physical object from one place to another. (NCI)
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A relatively less common point mutation in which a purine is exchanged for a pyrimidine or a pyrimidine is exchanged for a purine.
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A statistical hypothesis test that controls directional errors if rejection of a hypothesis is the result of a directional decision. The two-sided test has less statistical power than the one-sided test.
Glossary Term
Ubiquitin is a family of widely distributed proteins found in all eukaryotes that contain a highly conserved sequence of 76 amino acids identical in organisms from humans to insects. It participates in diverse cellular functions by conjugation to other proteins through its carboxy terminus. Ubiquitination is associated with many highly regulated biological events including protein degradation, chromatin remodelling, heat shock, cell cycle progression, differentiation, antigen presentation, retrovirus assembly, apoptosis, signal transduction, transcriptional activation, biological clocks, receptor down regulation, and endocytosis. Protein ubiquitination regulates the half-lives of many proteins by targeting them for degradation. Newly discovered families of ubiquitination and deubiquitination enzymes participate in these processes. Ubiquitination enzymes may provide new therapeutic targets and ways of intervention in many human diseases.
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Short random nucleotide sequences that are ligated to each primer molecule during amplification of a nucleotide sample during library preparation to act as a unique tag. Their use helps to identify PCR duplicates in sequencing data.
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The product of so-called RNA genes; a functional RNA represents the final product of a gene rather than a transient molecule that will be translated into protein.
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The act of validating; finding or testing the truth of something.
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A measure of the variability in a sample or population. It is calculated as the mean squared deviation (MSD) of the individual values from their common mean. In calculating the MSD, the divisor n is commonly used for a population variance and the divisor n-1 for a sample variance.
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The relative rate of occurrence of a specific variant allele compared to the total number of alleles at that locus in the sample. This measurement may be reported as a ratio or percentage.
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An alteration or difference from a norm or standard.
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A procedure that can determine the DNA sequence for nearly the entire genome of an individual.
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A method for converting an individual score into a standard form. The z-score indicates how far and in what direction an item deviates from its distribution's mean, expressed in units of standard deviation. Calculation of a z-score requires knowledge about the population's standard deviation and mean.