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Genotype
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== Genotyping == {{Main|Genotyping}} Genotyping refers to the method used to determine an individual's genotype. There are a variety of techniques that can be used to assess genotype. The genotyping method typically depends on what information is being sought. Many techniques initially require amplification of the DNA sample, which is commonly done using [[Polymerase chain reaction|PCR]]. Some techniques are designed to investigate specific SNPs or alleles in a particular gene or set of genes, such as whether an individual is a carrier for a particular condition. This can be done via a variety of techniques, including [[allele specific oligonucleotide]] (ASO) probes or [[DNA sequencing]].<ref name=":10">{{Citation|last=Jain|first=Kewal K.|title=Molecular Diagnostics in Personalized Medicine|date=2015|url=https://doi.org/10.1007/978-1-4939-2553-7_2|work=Textbook of Personalized Medicine|pages=35β89|editor-last=Jain|editor-first=Kewal K.|place=New York, NY|publisher=Springer|language=en|doi=10.1007/978-1-4939-2553-7_2|isbn=978-1-4939-2553-7|access-date=2021-11-19|url-access=subscription}}</ref><ref name=":11">{{Cite book|last1=Wallace|first1=Stephanie E.|url=https://www.ncbi.nlm.nih.gov/books/NBK279899/|title=Educational Materials β Genetic Testing: Current Approaches|last2=Bean|first2=Lora JH|date=2020-06-18|publisher=University of Washington, Seattle|language=en}}</ref> Tools such as [[multiplex ligation-dependent probe amplification]] can also be used to look for duplications or deletions of genes or gene sections.<ref name=":11" /> Other techniques are meant to assess a large number of SNPs across the genome, such as [[SNP array]]s.<ref name=":10" /><ref name=":11" /> This type of technology is commonly used for [[Genome-wide association study|genome-wide association studies]]. Large-scale techniques to assess the entire genome are also available. This includes [[Karyotype|karyotyping]] to determine the number of chromosomes an individual has and [[Comparative genomic hybridization|chromosomal microarrays]] to assess for large duplications or deletions in the chromosome.<ref name=":10" /><ref name=":11" /> More detailed information can be determined using [[exome sequencing]], which provides the specific sequence of all DNA in the coding region of the genome, or [[whole genome sequencing]], which sequences the entire genome including non-coding regions.<ref name=":10" /><ref name=":11" />
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