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Finally, one might combine both copy number variation and sequencing data to identify driver genes.
Therefore, it is desirable to integrate both copy number variation and sequence changes to identify driver genes if both data are available.
Our detailed three-pronged approach clearly demonstrates that CHEK2 duplicons show a high degree of both copy number variation and sequence identity.
We now show that, by combining SNPs with our exon-targeted oligonucleotide array, detection for both copy number variation and copy-neutral AOH are optimized and enabled in a convenient, single genomic assay.
A panel of 89 additional E. necator isolates collected from both synthetic fungicide-treated and non-treated vineyard sites was screened for both copy number variation and presence/absence of the Y136F mutation in the EnCYP51 gene.
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Accounting for both SNP and copy number variation, 1,535 of the 1,771 instances of putatively aberrant SNPs in the four individuals (86.7%) demonstrated Mendelian inheritance.
The genetic structure of the C4 region is itself complex and highly polymorphic with both allelic and copy number variation of C4A and C4B genes.
In addition to these aberrations, copy number variation, both deletions and duplications, in the triplicate region of NEB, have been identified in 11 samples from six different families.
While it is unclear why these genes have elevated rates of somatic mutation, they are known to exhibit substantial genetic diversity in terms of both single nucleotide polymorphisms and copy number variation (Hasin et al., 2008).
While APP is a known early onset AD gene through both non-synosynous mutations and copy number variation, this work introduces the concept that mosaicism for amplification of APP in the cortex could underlie late onset sporadic AD.
First, rDNA copy number varies within yeast populations 28, both on chromosomes and through ERC copy number variation.
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