Genetic variation is a type of variation that can be inherited to offspring caused by changes in the genetic material of an organism. It is this variation that causes organisms to exhibit genetic diversity at different levels. Genetic diversity is the material basis for the survival and development of human society and plants. There are many types of genetic variation, from microscopically visible chromosome inversion to single nucleotide mutations. With the development of genomics, genetic variation information has become more comprehensive and has included SNP, InDel, SV, CNV, and transposon mutations, et al.
Variant calling refers to the use of high-throughput sequencing technology to sequence and analyze the differences in the entire genome of an individual or population of a species, to obtain a large amount of genetic variation information, such as Single Nucleotide Polymorphism (SNP) , Insertion and deletion sites (InDel) and structural variation sites (SV), copy number variation (CNV) and other information. Variant calling can provide the most basic and comprehensive data foundation for subsequent functional gene fine mapping and quickly, accurately and efficiently analyze the differences between genomes, analyze each base of the whole genome, and obtain the most extensive molecular markers.
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