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🌱 來自：bioinfo

variant_discovery

• somatic variant calling is used to study diseases like cancer
• In somatic variant calling, the reference is a related tissue from the same individual (e.g., healthy tissue in the case of cancer).
• Here, we expect to see genetic mosaicism between cells or presence of more than one genetic line as a result of genetic mutations.

There are several types of genetic variation studies but generally they can be classified into

• (i) Genome-wide association studies (GWASs)
• (ii) studies on consequences of variants
  • Clinical functional consequences are represented by a simple controlled vocabulary that defines the relative pathogenicity of a variant,
    • such as benign,
    • likely benign,
    • uncertain significance,
    • likely pathogenic, or
    • pathogenic.
• (iii) Population genetics

Allele frequencies are also influenced by the random genetic drift. This process explains the fluc- tuation in allele frequencies from one generation to another.