Genetics Abbreviations
57 abbreviations · part of Science & Engineering Abbreviations
Abbreviations from genetics, genomics, gene regulation and genetic genealogy: types of DNA and RNA (cDNA, mtDNA, siRNA, miRNA), sequencing methods (NGS, WGS, RNA-seq), kinds of genetic variation (SNP, CNV, indel), population and statistical genetics (GWAS, LD, QTL) and genome-editing terms. Units such as bp, kb and cM describe DNA length and genetic distance. Core molecules and lab methods such as DNA, RNA, PCR and CRISPR are listed under biology.
| Abbreviation | Stands for | Description |
|---|---|---|
| AD | Autosomal dominant | Inheritance pattern in which a single copy of a variant on a non-sex chromosome is enough to cause a trait or disorder. |
| AR | Autosomal recessive | Inheritance pattern in which a disorder appears only when a person inherits two altered copies of a gene on a non-sex chromosome, one from each parent. |
| atDNA | Autosomal DNA | DNA on the 22 pairs of non-sex chromosomes, inherited from both parents and reshuffled by recombination each generation. |
| BAC | Bacterial artificial chromosome | Engineered DNA vector based on the F plasmid of E. coli that can carry inserts of about 150,000 to 350,000 base pairs and replicate stably in bacteria. |
| BLAST | Basic Local Alignment Search Tool | Widely used program that searches databases for DNA or protein sequences similar to a query, ranking matches by statistical significance. |
| bp | Base pair | Unit of length for DNA: one pair of complementary bases, adenine with thymine or guanine with cytosine, across the two strands of the double helix. |
| cDNA | Complementary DNA | DNA synthesized from an RNA template by the enzyme reverse transcriptase. |
| ChIP-seq | Chromatin immunoprecipitation sequencing | Method for mapping where a protein, such as a transcription factor or a modified histone, binds across the genome. |
| cM | Centimorgan | Unit of genetic distance: two positions are 1 cM apart if there is a 1% chance they will be separated by recombination in one generation. |
| CNV | Copy-number variation | Difference between individuals in the number of copies of a DNA segment, typically 1,000 base pairs or longer, caused by deletions or duplications. |
| CpG | Cytosine-phosphate-guanine (site) | Spot in DNA where a cytosine is directly followed by a guanine along the same strand, linked by a phosphate. |
| dsDNA | Double-stranded DNA | DNA in its usual form of two complementary strands paired into a double helix. |
| eQTL | Expression quantitative trait locus | Genetic variant associated with differences in how strongly a gene is expressed, measured as RNA levels. |
| FISH | Fluorescence in situ hybridization | Laboratory technique that uses fluorescent DNA probes to detect specific genes or chromosome regions in cells, revealing gene amplifications, deletions and… |
| GC | Guanine-cytosine (content) | Proportion of bases in a DNA or RNA sequence that are guanine or cytosine, written as GC content or GC%. |
| gDNA | Genomic DNA | The complete chromosomal DNA of an organism, extracted from cells or tissue, including both genes and non-coding regions. |
| GWAS | Genome-wide association study | Study that scans hundreds of thousands to millions of SNPs across the genomes of many people to find variants more common in those with a trait or disease. |
| HDR | Homology-directed repair | DNA repair pathway that fixes a double-strand break by copying a matching template, such as a sister chromatid or a donor DNA supplied by researchers. |
| HGP | Human Genome Project | International research effort, launched in 1990 and declared complete in 2003, that produced the first reference sequence of the human genome at a cost of about 2.7… |
| HWE | Hardy-Weinberg equilibrium | Principle that allele and genotype frequencies in a large, randomly mating population stay constant across generations when there is no selection, mutation, migration… |
| indel | Insertion-deletion | Genetic variant in which bases are inserted into or deleted from DNA, typically 1 to 50 base pairs. |
| kb | Kilobase | One thousand base pairs (or nucleotides), the usual unit for sizes of genes, plasmids and DNA fragments. |
| LD | Linkage disequilibrium | Non-random association of alleles at nearby positions on a chromosome, so that knowing one variant predicts another. |
| lncRNA | Long non-coding RNA | RNA transcript longer than 200 nucleotides that does not code for a protein. |
| LOD | Logarithm of the odds (score) | Statistical measure in linkage analysis that compares the likelihood that a disease and a genetic marker are inherited together because they are close on a chromosome… |
| MAF | Minor allele frequency | Frequency of the less common allele at a variant position in a given population. |
| Mb | Megabase | One million base pairs, the unit used for chromosome lengths, large deletions and genome sizes. |
| miRNA | MicroRNA | Tiny non-coding RNA, about 22 nucleotides long, that fine-tunes gene activity by binding partially matching sequences in messenger RNAs and reducing their translation… |
| mtDNA | Mitochondrial DNA | Small circular genome inside mitochondria, 16,569 base pairs long in humans and carrying 37 genes. |
| ncRNA | Non-coding RNA | Any RNA molecule that functions without being translated into protein. |
| NGS | Next-generation sequencing | Family of high-throughput DNA sequencing technologies that read millions to billions of short DNA fragments in parallel, replacing one-at-a-time Sanger sequencing for… |
| NHEJ | Non-homologous end joining | Main pathway human cells use to repair double-strand breaks in DNA by directly ligating the broken ends without a template. |
| ORF | Open reading frame | Stretch of DNA or RNA that begins with a start codon and runs without interruption to a stop codon, so it could be translated into a protein. |
| PAM | Protospacer adjacent motif | Short DNA sequence that must sit immediately next to a target site for a CRISPR enzyme to bind and cut. |
| PRS | Polygenic risk score | Single number summarizing a person's inherited predisposition to a trait or disease, calculated by adding up the small effects of many genetic variants identified in… |
| QTL | Quantitative trait locus | Region of the genome associated with variation in a measurable trait that varies continuously, such as height, crop yield, milk production or blood pressure. |
| RFLP | Restriction fragment length polymorphism | Variation in the lengths of DNA fragments produced when DNA is cut with a restriction enzyme, caused by differences in sequence that create or destroy cutting sites. |
| RNA-seq | RNA sequencing | Use of high-throughput sequencing to measure which genes are expressed in a sample and at what levels, by converting RNA to cDNA and sequencing millions of fragments. |
| RNAi | RNA interference | Natural gene-silencing mechanism in which double-stranded RNA triggers the destruction or blocking of matching messenger RNAs. |
| scRNA-seq | Single-cell RNA sequencing | Technique that measures gene expression in thousands to millions of individual cells, rather than averaging across a tissue. |
| sgRNA | Single guide RNA | Engineered RNA that directs the Cas9 enzyme to a chosen DNA target in CRISPR gene editing. |
| shRNA | Short hairpin RNA | Artificial RNA that folds back on itself into a hairpin and is processed by the cell into an siRNA, silencing a target gene. |
| siRNA | Small interfering RNA | Short double-stranded RNA, usually 21-23 nucleotides long, that guides a protein complex to destroy a messenger RNA with a matching sequence, silencing that gene. |
| SNP | Single-nucleotide polymorphism | Position in the genome where people commonly differ by a single DNA letter, for example some carrying a C and others a T. |
| snRNA | Small nuclear RNA | Short RNA found in the nucleus of eukaryotic cells, about 150 nucleotides long, that forms the core of the spliceosome, the machine that cuts introns out of… |
| SNV | Single-nucleotide variant | Change of a single DNA letter at a particular position, regardless of how common it is in the population. |
| ssDNA | Single-stranded DNA | DNA consisting of one strand rather than a paired double helix. |
| STR | Short tandem repeat | Stretch of DNA in which a short motif of 2 to 6 bases is repeated several times in a row, with repeat counts that vary widely between people. |
| T2T | Telomere-to-telomere | Describes a genome assembly that runs without gaps from one end of each chromosome to the other. |
| TF | Transcription factor | Protein that binds specific DNA sequences and switches genes on or off by recruiting or blocking the machinery that copies DNA into RNA. |
| UTR | Untranslated region | Section of a messenger RNA that is not translated into protein: the 5' UTR lies before the start codon and the 3' UTR after the stop codon. |
| VNTR | Variable number tandem repeat | Region where a DNA sequence of roughly 10 to 100 bases is repeated head to tail, with the number of repeats differing between individuals. |
| VUS | Variant of uncertain significance | Classification for a genetic change whose effect on disease risk cannot yet be determined from available evidence. |
| WES | Whole-exome sequencing | Sequencing of the exome, the roughly 1-2% of the genome that codes for proteins, covering about 20,000 genes. |
| WGS | Whole-genome sequencing | Determination of nearly the complete DNA sequence of an organism's genome, about 3 billion base pairs for a human, including non-coding regions. |
| Y-DNA | Y-chromosome DNA | DNA on the Y chromosome, passed almost unchanged from father to son, so it traces a direct paternal line. |
| YAC | Yeast artificial chromosome | Cloning vector built from yeast chromosome parts, including a centromere, telomeres and an origin of replication, that can carry very large DNA inserts of up to about… |
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