Glossary Term
Standard Operating Procedure
An established procedure to be followed in carrying out a given operation or in a given situation.
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Glossary Term
An established procedure to be followed in carrying out a given operation or in a given situation.
Glossary Term
A measure of the likelihood that a significance test will detect an effect or difference in a sample if the effect or difference exists in the entire population from which that sample was taken.
Glossary Term
A stretch of repetitive nucleotide sequences (TTAGGG repeats in humans) found at both ends of each chromatid arm that plays a role in chromosome stability during replication.
Glossary Term
A genetic process in which single-stranded RNA with base sequence complementary to a region of plus strand DNA is synthesized by DNA-dependent RNA polymerases. Following the binding of RNA polymerase on DNA promoter regions, the RNA product is synthesized in a 5' to 3' direction, elongating RNA along the DNA strand as the polymerase proceeds, accompanied by unwinding and rewinding of the DNA template.
Glossary Term
The complete set of RNA transcripts that are produced by the genome, under specific circumstances or in a specific cell.
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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.
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.
Glossary Term
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.
Glossary Term
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.
Glossary Term
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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A WHO assessment that confirms a diagnostic meets quality, safety, and performance requirements for procurement by UN agencies and many national programs. WHO PQ status is frequently a tender eligibility criterion for public-health deployment in low- and middle-income countries.
Glossary Term
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.