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Categories of sequence functions are based on the Blast2GO program (http://www.blast2go.org/) [ 25].
While the previous ACMG recommendations provided interpretative categories of sequence variants and an algorithm for interpretation, the recommendations did not provide defined terms or detailed variant classification guidance.
Overall, we found that Btau4.6 presented almost double the number of discordances across most of its 6 categories of sequence vs. map discrepancies.
Divergence in these three categories of sequence classes was lowest among 0-fold degenerate sites and highest in AR (fig. 1).
However, genome surveys also revealed an unexpectedly large extent of other categories of sequence variants, including copy-number variants (CNV), inversions, translocations, and small to large sequence insertions and deletions [ 7].
Figure 3C shows the node score distributions for gammaproteobacterial gene samples of 50 genes each that were separated into three categories of sequence divergence (average pairwise sequence identity 44%, 61% and 70% respectively).
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When Dnmt1c/c clones expressing wild type DNMT1 were studied, there was a clear difference in the extent of digestion of the two categories of sequences from the Dnmt1c/c cells, indicating a restoration of methylation in these cells by the wild-type enzyme.
Number of reads and distinct sequences are shown of different categories of sequences.
Furthermore, hierarchically deployed attractors enable the brain to predict or represent different categories of sequences.
The mutations were distributed throughout the genome and they affected different categories of sequences (e.g., genes, transposons, pseudogenes) at approximately the same percentage at which they are represented in the Arabidopsis genome.
Array comparative genomic hybridization (aCGH) to detect copy number variants (CNVs) in mammalian genomes has led to a growing awareness of the potential importance of this category of sequence variation as a cause of phenotypic variation.
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