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Motivation: Large-scale genetic association studies are carried out with the hope of discovering single nucleotide polymorphisms involved in the etiology of complex diseases.
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Discovering single-nucleotide variants (SNVs) is also of great importance for the identification of single-nucleotide polymorphisms within the population.
RNA-seq technology has the advantages of quickly and reliably discovering single-nucleotide polymorphisms (SNPs).
In the 1970's and 80's, as whiskey lovers began to discover single malt Scotch, blended Scotch came to seem passe.
Those patients had newly discovered single focal lesions located in the peripheral regions of the lung.
DiscoSNP aims to discover Single Nucleotide Polymorphism from non-assembled reads and without a reference genome.
Hybridization of genomic DNA to Affymetrix arrays has been used to discover single feature polymorphisms in Arabidopsis [ 13], rice [ 14], and barley [ 15].
We used the FreeBayes software [ 31] to discover single nucleotide polymorphisms (SNPs), as well as custom Java code for converting the resulting VCF file into a human-readable text file.
Here we used genome reduction, MID-barcoding, and 454-pyrosequencing to discover single nucleotide polymorphisms that differentiate cutthroat trout subspecies and can be used as a rapid, cost-effective method to characterize the genetic composition of cutthroat trout populations.
Some of these animal models have led us to discover single gene deficiencies that are found rarely in human disease, as well as a number of candidate genes for association.
The pyrosequencing technique was used for validation of specific discovered single base substitution-type mutations (NOTCH2 C7310T, SMYD1 G839T, MYD88 T794C, ZNF608 A3659G, PDE10A G1072A) in a validation cohort of 24 microdissected SMZL samples.
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CEO of Professional Science Editing for Scientists @ prosciediting.com