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Sequence coverage (or depth) is the number of unique reads that include a given nucleotide in the reconstructed sequence. [1] [2] Deep sequencing refers to the general concept of aiming for high number of unique reads of each region of a sequence. [3] Physical coverage, the cumulative length of reads or read pairs expressed as a multiple of ...
These concepts are already being exploited in genetic engineering. [20] For example, a research team has actually constructed a PAC shuttle vector that creates a library representing two-fold coverage of the human genome. [17] This could serve as an incredible resource to identify genes, or sets of genes, causing disease.
In computational biology, N50 and L50 are statistics of a set of contig or scaffold lengths. The N50 is similar to a mean or median of lengths, but has greater weight given to the longer contigs. It is used widely in genome assembly , especially in reference to contig lengths within a draft assembly.
The following outline is provided as an overview of and topical guide to genetics: . Genetics – science of genes, heredity, and variation in living organisms. [1] [2] Genetics deals with the molecular structure and function of genes, and gene behavior in context of a cell or organism (e.g. dominance and epigenetics), patterns of inheritance from parent to offspring, and gene distribution ...
Gene dosage is the number of copies of a particular gene present in a genome. [1] Gene dosage is related to the amount of gene product (proteins or functional RNAs) the cell is able to express. Since a gene acts as a template, the number of templates in the cell contributes to the amount of gene product able to be produced.
Gene structure is the organisation of specialised sequence elements within a gene. Genes contain most of the information necessary for living cells to survive and reproduce. [ 1 ] [ 2 ] In most organisms, genes are made of DNA, where the particular DNA sequence determines the function of the gene.
Meaning the phenotype that is observed can be a result of two different alleles (gene variants) being summed or multiplied. However, a reduction in expression may also occur in which the primary locus, where the gene is located, is affected. [4] Epigenetic factors are heritable changes in the chromatin accessibility that affect the gene ...
There are two distinctive mapping approaches used in the field of genome mapping: genetic maps (also known as linkage maps) [7] and physical maps. [3] While both maps are a collection of genetic markers and gene loci, [8] genetic maps' distances are based on the genetic linkage information, while physical maps use actual physical distances usually measured in number of base pairs.
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