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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 ...
In molecular biology, reading frames are defined as spans of DNA sequence between the start and stop codons. Usually, this is considered within a studied region of a prokaryotic DNA sequence, where only one of the six possible reading frames will be "open" (the "reading", however, refers to the RNA produced by transcription of the DNA and its ...
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 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.
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.
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.
The distance between sequences is computed by a genetic distance measure (a mathematical formula that maps two sequences to a non-negative real number) that quantifies the evolutionary divergence between the sequences under some model of molecular evolution.
The coding region of a gene, also known as the coding DNA sequence (CDS), is the portion of a gene's DNA or RNA that codes for a protein. [1] Studying the length, composition, regulation, splicing, structures, and functions of coding regions compared to non-coding regions over different species and time periods can provide a significant amount of important information regarding gene ...