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The gene products can be further annotated using GO terms.
Mutations will be further annotated using the last three digits of their chromosome location as 228C>T, 242CC>TT, and 250C>T respectively.
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30.5% of sequences were further annotated using annotation transfer procedure for Gene Ontology (GO) terms for molecular function, biological process and cellular component.
These sequences were further annotated using the BLAST2GO annotation pipeline.
The extracted characterized repeat reads were further annotated using the repeat junction annotation pipeline (Table S1 in Additional file 1) to identify unique RJs, which are used for SNP identification.
Variants with sufficient coverage were further annotated using Annovar and SNPeff, giving RefSeq gene annotations, amino acid changes, ExAC SIFT, PolyPhen, LTR and MutationTaster scores.
The resulting gene list was further annotated using Pubmed [30] and [31] searches in order to select the genes to be later analyzed by Real Time PCR.
The corresponding probe sets belonging to these 10 globally overrepresented ontologies were further annotated using DAVID, resulting in the identification of 568 unique genes.
The sequences were further annotated using InterPro [ 107].
Genes were further annotated using GeneCodis and KEGG pathways [ 32].
Finally, genes were further annotated using InterProScan 5RC4 (Quevillon et al. 2005).
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