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The word "allele" is a short form of "allelomorph" ("other form", a word coined by British geneticists William Bateson and Edith Rebecca Saunders) in the 1900s, [7][8] which was used in the early days of genetics to describe variant forms of a gene detected as different phenotypes. It derives from the Greek prefix ἀλληλο-, allelo ...
An overview of the Hi-C workflow and its applications in research. Figure made using BioRender. Hi-C is a high-throughput genomic and epigenomic technique to capture chromatin conformation (3C). [1] In general, Hi-C is considered as a derivative of a series of chromosome conformation capture technologies, including but not limited to 3C ...
Molecular diagnostics is a collection of techniques used to analyze biological markers in the genome and proteome, and how their cells express their genes as proteins, applying molecular biology to medical testing. In medicine the technique is used to diagnose and monitor disease, detect risk, and decide which therapies will work best for ...
Comparative genomic hybridization (CGH) is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells. The aim of this technique is to quickly and efficiently compare two genomic DNA samples arising from two ...
The Single Nucleotide Polymorphism Database[ 1 ] (dbSNP) is a free public archive for genetic variation within and across different species developed and hosted by the National Center for Biotechnology Information (NCBI) in collaboration with the National Human Genome Research Institute (NHGRI). Although the name of the database implies a ...
In molecular biology, SNP array is a type of DNA microarray which is used to detect polymorphisms within a population. A single nucleotide polymorphism (SNP), a variation at a single site in DNA, is the most frequent type of variation in the genome. Around 335 million SNPs have been identified in the human genome, [ 1 ] 15 million of which are ...
Allele frequency. Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in a population, expressed as a fraction or percentage. [1] Specifically, it is the fraction of all chromosomes in the population that carry that allele over the total population or sample size.
The Talking Glossary of Genetics is a science learning tool developed by the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH). NHGRI oversaw the NIH's role in the Human Genome Project, the international research effort aimed at mapping the genes in the human body and developing tools for gene discovery ...