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Variant calling refers to the sequencing and differential analysis of the genome of an individual or a species population by high-throughput sequencing technology. A large amount of genetic variation information can be obtained, such as single nucleotide polymorphism (SNP), insertion-deletion (InDel), structural variation (SV), copy number variation (CNV), and so forth. This basic information can be further used to develop molecular markers, establish a genetic polymorphism database, and provide data basis for the subsequent revelation of evolutionary relationships and mining of functional genes.
Long-read sequencing technologies, including PacBio SMRT and Oxford Nanopore sequencing, make it possible to detect variants in genomic regions that are proposed difficult to map through typical short-read sequencing methods (such as Illumina sequencing). CD Genomics is a leading global life sciences company. We specialize in the application of third-generation sequencing technologies. With the help of our advanced platform and skilled experts, researchers can detect all variant types from long-read datasets and discover new variants in complex genomic regions.
Genetic variation is a type of variation that can be passed on to offspring as a result of changes in the genetic material of an organism. Genetic variation is always relative. Typically, genetic variants can be divided into two categories, including sequence and structural variants. The former refers to small-scale changes at the nucleotide level affecting the coding sequence of a gene, such as single nucleotide variants (SNVs) and small insertions/deletions (InDels). Structural variants (SVs) are large genomic alterations (>50 bp), mainly including deletions, inversions, duplications, insertions, and translocations. Copy number variations (CNVs), a specific subtype of SVs, mainly manifest as deletions and duplications. These genomic variants have significant phenotypic effects, disrupting gene function and regulating or modifying gene dosage. The importance of SVs for genetic variation among individuals is greater than SNPs and/or InDels. SVs are closely associated with gene regulations, evolution, phenotype, and human diseases.
Our services can be applied to a variety of species, with the advantages of more comprehensive detection of variants and the possibility of detecting new variants. Moreover, expedited services are available. Please feel free to contact us for more details.