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And given that one finds dozens of splice variants in normal individuals, what exactly is meant by a control sample?
Recent technological advances have highlighted the role of copy number variants in normal and pathological phenotypic expression.
The high resolution attainable with these recently developed techniques has also uncovered the role of structural variants in normal genetic variation alongside single-nucleotide polymorphisms (SNPs).
To determine the differences of expression levels between the TRAIL splice variants in normal or neoplastic transformed gastric tissue statistical analyses were performed by using the Wilcoxon test.
Comparison of the four population groups revealed an increased rate of rare disease-associated variants in normal parents of children with autism.
The relative levels of expression of the K- ras splice variants in normal small intestine and small intestinal tumours were quantified by real-time RT-qPCR analysis.
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In the present study, we further assessed the relative levels of each ATIP transcript variant in normal and SACC samples.
A predominant expression of the α6B variant in normal colonic tissue is in accordance with the fact that the quiescent cell population outsizes the proliferative cell population in the normal colon.
Further analysis of the FGFR3IIIc variant in normal cDNAs and RNAs was made by amplification using a primer specific to FGFR3IIIS sequence (exon 7/11 splice site), paired with a primer at the 5′ (exon 2; 5′-GACGCCGCGGCCCCCGCCCCCGCCA -3′) or 3′ (exon 17; 5′-AGAGCAGGACCCCAAAGGACCAGAC -3′; primer set 3) ends of the published wild-type sequence.
Moreover, after filtering these variants with the new variants identified in normal samples by exome sequencing [ 45], only three variants in the patient 1 sample and two variants in the patient 2 sample would have required careful interpretation.
Expression of splice variant I was assessed and considered as representative for overall HAX1 expression, on the basis of its prevalence in respect to other variants (as shown in this study in section " HAX1 splice variants expression in normal vs. tumor samples of breast cancer" and in Carlsson et al., 2008 [ 25]).
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