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In molecular biology and genetics, DNA annotation or genome annotation is the process of describing the structure and function of the components of a genome, [2] by analyzing and interpreting them in order to extract their biological significance and understand the biological processes in which they participate. [3]
One common use of open reading frames (ORFs) is as one piece of evidence to assist in gene prediction.Long ORFs are often used, along with other evidence, to initially identify candidate protein-coding regions or functional RNA-coding regions in a DNA sequence. [5]
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 present at frequencies of 1% or higher across different populations worldwide.
DNA annotation or genome annotation is the process of identifying the locations of genes and all of the coding regions in a genome and determining what those genes do. An annotation (irrespective of the context) is a note added by way of explanation or commentary. Once a genome is sequenced, it needs to be annotated to make sense of it. [49]
The three primary genome browsers—Ensembl genome browser, UCSC genome browser, and the National Centre for Biotechnology Information (NCBI)—support different sequence analysis procedures, including genome assembly, genome annotation, and comparative genomics like exploring differential expression patterns and identifying conserved regions.
Ab Initio gene prediction is an intrinsic method based on gene content and signal detection. Because of the inherent expense and difficulty in obtaining extrinsic evidence for many genes, it is also necessary to resort to ab initio gene finding, in which the genomic DNA sequence alone is systematically searched for certain tell-tale signs of protein-coding genes.
Alternatively, if the genome of the organism that originated the EST has been sequenced, one can align the EST sequence to that genome using a computer. The current understanding of the human set of genes (as of 2006) includes the existence of thousands of genes based solely on EST evidence. In this respect, ESTs have become a tool to refine ...
Optical mapping [1] is a technique for constructing ordered, genome-wide, high-resolution restriction maps from single, stained molecules of DNA, called "optical maps". By mapping the location of restriction enzyme sites along the unknown DNA of an organism, the spectrum of resulting DNA fragments collectively serves as a unique "fingerprint" or "barcode" for that sequence.