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Three alleles of the GS6 gene, type I to III, were distinguished by nucleotide variants in the promoter region.
The results of the present study allowed the detection of copy number and single nucleotide variants not yet identified.
This study investigated the statistical power for identifying nucleotide variants associated with quantitative traits using the mixed model methodology.
The different-length MIPs, a padlock-probe based technology, are designed to simultaneously recognize the identical nucleotide variants.
Therefore, we investigated the association of single nucleotide variants (SNVs) in selected candidate genes known to regulate cellular pyrophosphate metabolism.
Three alleles of GS6 gene, type I to III, were distinguished by nucleotide variants in the promoter region (Sun et al. 2013).
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SeqReporter correctly annotated and classified 99.9% (859 of 860) of sequence variants, including 68.7% synonymous single-nucleotide variants, 28.3% nonsynonymous single-nucleotide variants, 1.7% insertions, and 1.3% deletions.
There are ∼35 known single-nucleotide variants (SNVs) that explain only ∼10% of variation in triglyceride (TG) level.
Discovering single-nucleotide variants (SNVs) is also of great importance for the identification of single-nucleotide polymorphisms within the population.
Additionally, we uncover several novel single-nucleotide variants present in more than 5% of patients, often in genes not commonly associated with lung adenocarcinoma.
MNV = Multi-Nucleotide Variants, SNV = Single-Nucleotide Variants.
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