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We offer a wide range of genotyping analysis using the following platforms:

  • PCR
  • Sanger sequencing
  • Fragment analysis
  • Next generation sequencing (Ion Torrent and Illumina)
  • Microarrays [see microarray services page]
  • These technologies are suitable for genotyping any number of SNPs, CNV, Indels and structural variations from one up to several million and for a wide range of sample numbers (1-800,000+). Several of our technology platforms are suitable for use with low yield and/or fragmented materials material.

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Definitions

SNPs = Single Nucleotide Polymorphisms (commonly referred to as SNPs).

  • SNPs are the most commonly occurring type of genetic variation among humans and occur within an individual’s DNA. 
  • Each SNP represents a difference in a single nucleotide (DNA building block)
  • A human genome possesses roughly 4 to 5 million SNPs. SNPs generally occur once every 1,000 nucleotides.
  • These variations in DNA, that occur between genes, act as biological markers to identify genes associated with different diseases. 

CNV = Copy Number Variation

  • Copy number variation is a type of structural variation where one individual has a different number of copies of a specific gene compared to another individual.
  • The number of variants/repeats can vary considerably between individuals' genomes. Some people may have two, three or even four times the copies in a specific chromosomal region.
  • CNV includes insertions, deletions, and duplications of segments of DNA.

Indels

  • Indels are a type of genetic variation in the bases of the genome.
  • Indels are either insertions or deletions, depending on whether a specific nucleotide sequence is present or absent. 
  • Indels are widespread throughout the genome but are less common than SNPs. 

Structural variation

  • Structural variation is genomic variation in the structure of a chromosome.
  • There are multiple types of detectable structural variations in the human genome, including; insertions, deletions, CNVs, duplications, inversions and translocations.