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The term transcriptome is a portmanteau of the words transcript and genome; it is associated with the process of transcript production during the biological process of transcription. The early stages of transcriptome annotations began with cDNA libraries published in the 1980s. Subsequently, the advent of high-throughput technology led to ...
It consists of all DNA that is transcribed into mature RNA in cells of any type, as distinct from the transcriptome, which is the RNA that has been transcribed only in a specific cell population. The exome of the human genome consists of roughly 180,000 exons constituting about 1% of the total genome, or about 30 megabases of DNA. [16]
However, transcriptomes are cheaper to sequence than complete genomes and may be obtained without the use of a pre-existing reference genome. [ 1 ] It is not uncommon to translate RNA sequence into protein sequence when using transcriptomic data, especially when analyzing highly diverged taxa.
Whereas a genome sequence lists the order of every DNA base in a genome, a genome map identifies the landmarks. A genome map is less detailed than a genome sequence and aids in navigating around the genome. [75] [76] An example of a variation map is the HapMap being developed by the International HapMap Project.
Genome annotation is the process of attaching biological information to sequences, and consists of three main steps: [68] identifying portions of the genome that do not code for proteins; identifying elements on the genome, a process called gene prediction, and; attaching biological information to these elements.
Transcriptome analysis is beneficial for obtaining information about all RNAs present and can provide valuable insight into the genetic mechanisms that are tissue specific. [6] The transcriptome was first investigated in the 1990s in an experiment performed to identify a partial transcriptome of the human brain.
GENCODE is a scientific project in genome research and part of the ENCODE (ENCyclopedia Of DNA Elements) scale-up project.. The GENCODE consortium was initially formed as part of the pilot phase of the ENCODE project to identify and map all protein-coding genes within the ENCODE regions (approx. 1% of Human genome). [2]
Read mapping is the process to align NGS reads on a reference genome. [12] Any NGS application, such as genome variation calling, transcriptome analysis, transcription factor binding site calling, epigenetic mark calling, metagenomics, and so on, requires read mapping. The performance of these applications is influenced by accurate alignment.