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Functionally relevant CNVs can alter gene function or regulation by various proposed mechanisms, including alteration of gene dosage, gene interruption, gene fusion, and alteration of a gene's position relative to regulatory elements.
Mutations are changes in the DNA sequence that may alter gene function.
But in many cases, it is not clear how the sequence changes alter gene function — if at all.
Multiple types of isoforms for known HSC genes and unannotated splicing that may alter gene function are presented.
Muller (1927) used x-rays to intervene on and alter gene function, thus revealing the application of methods from physics to a biological domain (see Elof Carlson on Muller's Research in Other Internet Resources).
It is likely that some LOAD susceptibility alleles alter gene function similarly in affected and unaffected brain regions and even in peripheral tissues and lymphoblastoid cell lines, whereas others alter gene function selectively in affected brain regions.
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The total percentage of cSNPs, uSNPs, and dSNPs having the capacity to alter gene functions was 57.3%.
In particular, gene copy number variations (GCNVs), which change the numbers of gene loci in genomes, can significantly alter gene functions and dosages [ 17, 18].
The movement and propagation of TEs introduce haplotype variation, and alter gene functions when integrated within coding regions of a genome.
Thus, it is important to use both genomic and expression data sets to complement each other as genomic variants which ultimately alter gene functions other than expression may not be detected [ 74].
Disruption of epigenetic processes can lead to altered gene function and malignant cellular transformation.
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