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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 ...
It can be thought of as the point of half of the mass of the distribution; the number of bases from all contigs longer than the N50 will be close to the number of bases from all contigs shorter than the N50. For example, consider 9 contigs with the lengths 2,3,4,5,6,7,8,9, and 10; their sum is 54, half of the sum is 27, and the size of the ...
These types of false-positive variants are filtered out by the duplex sequencing method since mutations need to be accurately matched in both strands of DNA to be validated as true mutations. Duplex sequencing can theoretically detect mutations with frequencies as low as 10 −8 compared to the 10 −2 rate of standard NGS methods. [1] [2] [10]
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.
In population genetics, the Watterson estimator is a method for describing the genetic diversity in a population. It was developed by Margaret Wu and G. A. Watterson in the 1970s. [1] [2] It is estimated by counting the number of polymorphic sites. It is a measure of the "population mutation rate" (the product of the effective population size ...
1 Usage on a gene page. 2 Usage on a ... 5 Categories. 6 Data structure. Toggle Data structure subsection. 6.1 Case A. 6. ... 9 External links. Toggle the table of ...
A high coverage in shotgun sequencing is desired because it can overcome errors in base calling and assembly. The subject of DNA sequencing theory addresses the relationships of such quantities. Sometimes a distinction is made between sequence coverage and physical coverage. Sequence coverage is the average number of times a base is read (as ...
In genetics, the gene density of an organism's genome is the ratio of the number of genes per number of base pairs, usually written in terms of a million base pairs, or megabase (Mb). The human genome has a gene density of 11-15 genes/Mb, while the genome of the C. elegans roundworm is estimated to have 200.
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