A summary of the new standards follows this preface. The summary and the one-. page chart in Appendix C describe the classes of nonexchange transactions and give an. overview of the recognition criteria for each class.
What are single nucleotide polymorphisms (SNPs)? Single nucleotide polymorphisms, frequently called SNPs (pronounced âsnipsâ), are the most common type of genetic variation among people. Each SNP represents a difference in a single DNA building block, called a nucleotide. For example, a SNP may replace the nucleotide cytosine (C) with the nucleotide thymine (T) in a certain stretch of DNA. SNPs occur normally throughout a personâs DNA.
With that caveat in mind, SNP calling in the context of NGS data analysis might be defined as the process of finding bases in the NGS data that differ from the reference genome, typically including an associated confidence score or statistical evidence metric.