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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]
Annotating large numbers of SNPs is a difficult and complex process, which need computational methods to handle such a large dataset. Many tools available have been developed for SNP annotation in different organisms: some of them are optimized for use with organisms densely sampled for SNPs (such as humans ), but there are currently few tools ...
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.
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 ...
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.
GeneMark is a generic name for a family of ab initio gene prediction algorithms and software programs developed at the Georgia Institute of Technology in Atlanta.Developed in 1993, original GeneMark was used in 1995 as a primary gene prediction tool for annotation of the first completely sequenced bacterial genome of Haemophilus influenzae, and in 1996 for the first archaeal genome of ...
[1] [4] This more general definition can be useful in the context of transcriptomics and metagenomics, where a start or stop codon may not be present in the obtained sequences. Such an ORF corresponds to parts of a gene rather than the complete gene.
Bulked segregant analysis (BSA) is a technique used to identify genetic markers associated with a mutant phenotype.This allows geneticists to discover genes conferring certain traits of interest, such as disease resistance or susceptibility.