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--- chapter_21 [2026/10/25 01:17] – [Genomes and human genetics] mike
+++ chapter_21 [2026/10/25 01:20] (current) – [Single nucleotide polymorphisms (SNPs)] mike
@@ Line 47: / Line 47: @@
 The vast majority (probably 99%) of SNPs are selectively “neutral” changes of little or no functional consequence. This is mostly because they likely exist outside coding or gene regulatory regions (>97% of human genome). They can also be silent substitutions in coding sequences, or amino acid substitutions that do not affect protein stability or function. A small minority of SNPs are of functional consequence and are selectively advantageous or disadvantageous; this can affect the allele frequency of these SNPs.
-SNPs can be detected in a variety of ways. Conceptually, all you need to detect a SNP is knowledge of the DNA sequence surrounding the SNP. Armed with this information, you could use PCR to amplify a DNA fragment that contains the SNP from individuals and sequence the DNA ([[chapter_07|chap. 7]]). In practice, you would likely use a device called a DNA microarray that is specifically designed to detect SNPs. Or, you could simply use NGS sequencing technology to sequence the genome of the individual to identify SNPs.
+SNPs can be detected in a variety of ways. Conceptually, all you need to detect a SNP is knowledge of the DNA sequence surrounding the SNP. Armed with this information, you could use PCR to amplify a DNA fragment that contains the SNP from individuals and sequence the DNA ([[chapter_07|Chap. 7]]). In practice, you would likely use a device called a DNA microarray that is specifically designed to detect SNPs. Or, you could simply use NGS sequencing technology to sequence the genome of the individual to identify SNPs.
 ==== Simple sequence repeats (SSRs) ====