Glossary Term
Single Nucleotide Polymorphism
A variation of a single nucleotide at a specific location of the genome due to base substitution, present at an appreciable frequency between individuals of a single interbreeding population.
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Glossary Term
A variation of a single nucleotide at a specific location of the genome due to base substitution, present at an appreciable frequency between individuals of a single interbreeding population.
Glossary Term
Alternate Splicing is a process in which multiple protein isoforms or products are generated from a single gene as a result of splicing together different nonconsecutive exons during the processing of initially identical nascent transcripts of a gene into mature mRNA transcripts. An exon may be connected to any one of several alternative exons to form the mRNA and generate related proteins, often in a tissue or developmental stage specific manner.
Glossary Term
Single-stranded DNA that is complementary to messenger RNA or DNA that has been synthesized from messenger RNA by reverse transcriptase.
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A sequence of single-stranded RNA that forms a covalently closed continuous loop.
Glossary Term
A statistical method of partitioning a sample of data into subsets such that the analysis is initially performed on a single subset, while the other subsets are retained for subsequent use in confirming and validating the initial analysis.
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A study in which participants are examined once for a characteristic, such as disease, at a single point in time.
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The complete genomic content of an organism, and possibly the full DNA sequence of that organism. It is contained in a set of chromosomes in eukaryotes, a single chromosome in bacteria, or a DNA or RNA molecule in viruses.
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A non-target amplification built into a reaction to prove the assay chemistry worked even when the sample is negative. It helps distinguish a true negative from inhibition or setup failure, which matters when interpreting single-target assays on difficult matrices.
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A genetic variation where gain, loss, or exchange of DNA results in monoallelic loss of function mutations in a diploid cell. In the context of tumor suppressor genes, where a single copy is sufficient for functionality, loss of function for the second allele is associated with tumorigenesis.
Glossary Term
A sequence of single-stranded RNA, that is 20-25 nucleotides in length, which is transcribed from DNA but is not translated into a protein. This nucleic acid may regulate the transcription or translation of other genes.
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Amplification of several targets in a single reaction using multiple primer pairs, each distinguishable by fluorescent channel or melting profile. Multiplexing raises information per sample but makes channel allocation, dye compatibility, and competition between targets key selection criteria.
Glossary Term
Any transmissible change in the genetic material of an organism, which can result from radiation, viral infection, transposition, treatment with mutagenic chemicals and errors during DNA replication or meiosis. The effects of mutation range from single base changes to loss or gain of complete chromosomes. As many of the simpler alterations to DNA may be repaired, such changes are only heritable once the change is fixed in the DNA by the process of replication. Mutations may be associated with genetic diversity or with pathologies including cancer.