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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.
The following formula takes into account the most important variables that can affect depth of coverage (N=40DG÷R) where "N" is the number of reads, "D" is the desired depth of coverage, "G" is the size of DNA target in base pair, and "R" is final read length.
Selection coefficient, usually denoted by the letter s, is a measure used in population genetics to quantify the relative fitness of a genotype compared to other genotypes. . Selection coefficients are central to the quantitative description of evolution, since fitness differences determine the change in genotype frequencies attributable to selecti
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 proportion of segregating sites within a gene is an important statistic in population genetics since it can be used to estimate mutation rate assuming no selection. For example it is used to calculate the Tajima's D neutral evolution statistic. A sequence alignment, produced by ClustalO, of mammalian histone proteins.
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.
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.