CNV discovery using SNP genotyping arrays.
Genome-wide single nucleotide polymorphism (SNP) genotyping platforms have made an important contribution to population genetics and genetic epidemiology. Recently there has been a realisation that these SNP platforms can also be used for typing copy number variants (CNVs). This allows for 'gen...
| Main Authors: | , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2008
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| _version_ | 1797080412116221952 |
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| author | Yau, C Holmes, C |
| author_facet | Yau, C Holmes, C |
| author_sort | Yau, C |
| collection | OXFORD |
| description | Genome-wide single nucleotide polymorphism (SNP) genotyping platforms have made an important contribution to population genetics and genetic epidemiology. Recently there has been a realisation that these SNP platforms can also be used for typing copy number variants (CNVs). This allows for 'generalised' genotyping of both SNPs and CNVs simultaneously on a common sample set, with advantages in terms of cost and unified analysis. In this article we review various statistical approaches to calling CNVs from SNP data. We highlight three tiers of algorithms depending on the level of information used. |
| first_indexed | 2024-03-07T00:59:39Z |
| format | Journal article |
| id | oxford-uuid:8947bbf7-a225-466c-a18c-218d02c553de |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T00:59:39Z |
| publishDate | 2008 |
| record_format | dspace |
| spelling | oxford-uuid:8947bbf7-a225-466c-a18c-218d02c553de2022-03-26T22:23:22ZCNV discovery using SNP genotyping arrays.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:8947bbf7-a225-466c-a18c-218d02c553deEnglishSymplectic Elements at Oxford2008Yau, CHolmes, CGenome-wide single nucleotide polymorphism (SNP) genotyping platforms have made an important contribution to population genetics and genetic epidemiology. Recently there has been a realisation that these SNP platforms can also be used for typing copy number variants (CNVs). This allows for 'generalised' genotyping of both SNPs and CNVs simultaneously on a common sample set, with advantages in terms of cost and unified analysis. In this article we review various statistical approaches to calling CNVs from SNP data. We highlight three tiers of algorithms depending on the level of information used. |
| spellingShingle | Yau, C Holmes, C CNV discovery using SNP genotyping arrays. |
| title | CNV discovery using SNP genotyping arrays. |
| title_full | CNV discovery using SNP genotyping arrays. |
| title_fullStr | CNV discovery using SNP genotyping arrays. |
| title_full_unstemmed | CNV discovery using SNP genotyping arrays. |
| title_short | CNV discovery using SNP genotyping arrays. |
| title_sort | cnv discovery using snp genotyping arrays |
| work_keys_str_mv | AT yauc cnvdiscoveryusingsnpgenotypingarrays AT holmesc cnvdiscoveryusingsnpgenotypingarrays |