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Usually refers to microscopic or submicroscopic types

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Unformatted text preview: ns of Current Programs •  Unable to adequately deal with things other than SNPs (i.e. micro ­indels). •  Results between programs varies drama/cally. •  Very sensi/ve the errors of alignment and read quality. 10 Review of Structural Varia/ons •  Structural variaAons are varia/ons in an organism’s chromosome. •  Usually refers to microscopic or submicroscopic types, such as: –  dele/ons, duplica/ons, copy ­number varia/ons, inser/ons, inversions and transloca/ons •  Typically, a SV affects about 1Kb to 3Mb, which is larger than a SNP and smaller than a chromosomal abnormality. 11 Review of Structural Varia/ons •  Many structural varia/ons are associated with gene/c disease, however, some are not. •  SVs are significantly difficult to detect. •  SVs have func/on in popula/on gene/cs – Different frequency of a same varia/on can be used as a gene/c mark to infer rela/onship between popula/ons in different areas. 12 Fluoroscent in situ hybridiza/on (FISH) •  (Cancer genomes show extensive structural varia/on) •  Historically, larger structural varia/ons (easily observed under a microscope were commonly studied, mostly in the context of diseases… 14 An inserAon (also called an inserAon mutaAon) is the addi/on of one or more nucleo/des. Inser/ons can be anywhere in size from one base pairs incorrectly inserted into a DNA sequence to a sec/on of one chromosome inserted into another. 15 •  Inser/ons can be par/cularly hazardous if they occur in an exon •  A frame shiG muta/on is a type of inser/on that alters the reading frame, and hence, the amino acids produced by a gene. 16 Inser/ons an...
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