SNPs in Genes With Copy Number Variation: A Question of Specificity
IR@IICB: CSIR-Indian Institute of Chemical Biology, Kolkata
View Archive Info| Field | Value | |
| Title |
SNPs in Genes With Copy Number Variation: A Question of Specificity
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| Creator |
Sengupta, Mainak
Ray, Ananya Chaki, Moumita Maulik, Mahua Ray, Kunal |
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| Subject |
Molecular & Human Genetics
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| Description |
The specificity of single nucleotide polymorphisms (SNPs)
is likely to be compromised with most of the current PCRbased methods used to genotype a target locus in the presence of a highly homologous duplicated region. Such a lack of locus specificity could inflate the heterozygosity of the SNPs. We reasoned that public database for SNPs might
be influenced by false allele calls, specifically in genes with copy number variation (CNV). Therefore, we compared the
fraction of SNPs with high heterozygosity values (≥ 0.4) in
NCBI dbSNP for genes with and without CNVs. Our observation
highlights the challenges of selecting SNPs in genes
with CNV for usage in complex biological studies.
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| Date |
2008
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| Type |
Article
PeerReviewed |
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| Format |
application/pdf
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| Identifier |
http://www.eprints.iicb.res.in/231/1/JOURNAL_OF_GENETICS%2C__87(_1)%2C_95%2D97%2C2008[102].pdf
Sengupta, Mainak and Ray, Ananya and Chaki, Moumita and Maulik, Mahua and Ray, Kunal (2008) SNPs in Genes With Copy Number Variation: A Question of Specificity. Journal of Genetics, 87 (7). pp. 95-97. |
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| Relation |
http://dx.doi.org/10.1007/s12041-008-0014-6
http://www.eprints.iicb.res.in/231/ |
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