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In bioinformatics, sequence analysis is the process of subjecting a DNA, RNA or peptide sequence to any of a wide range of analytical methods to understand its features, function, structure, or evolution. It can be performed on the entire genome, transcriptome or proteome of an organism, and can also involve only selected segments or regions ...
Chromosomal reciprocal translocation of the 4th and 20th chromosome. In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal, and Robertsonian translocation.
In recent years, next generation sequencing technology has already become available to screen known and novel gene fusion events on a genome wide scale. However, the precondition for large scale detection is a paired-end sequencing of the cell's transcriptome. The direction of fusion gene detection is mainly towards data analysis and visualization.
Gene conversion is the process by which one DNA sequence replaces a homologous sequence such that the sequences become identical after the conversion. [1] Gene conversion can be either allelic, meaning that one allele of the same gene replaces another allele, or ectopic, meaning that one paralogous DNA sequence converts another.
De novo sequence assembly may be applied with reads that are accurate enough. While, in practice, use of this method is limited by the length of sequence reads, long read based genome assemblies offer structural variation discovery for classes such as insertions that escape detection when using other methods.
End sequence profiling (ESP) can be used to detect structural variations such as insertions, deletions, and chromosomal rearrangement. Compare to other methods that look at chromosomal abnormalities, ESP is particularly useful to identify copy neutral abnormalities such as inversions and translocations that would not be apparent when looking at copy number variation.
Copy number variation was initially thought to occupy an extremely small and negligible portion of the genome through cytogenetic observations. [12] Copy number variations were generally associated only with small tandem repeats or specific genetic disorders, [13] therefore, copy number variations were initially only examined in terms of specific loci.
NUMT insertion into the nuclear genome and its persistence in the nuclear genome is initiated by the physical delivery of mitochondrial DNA to the nucleus. [5] This step follows by the mtDNA integration into the genome through a non-homologous end joining mechanism during the double-strand break (DSB) repair process as envisioned by studying Saccharomyces cerevisiae, [13] [29] and terminates ...