WFRF:(Ahmadian A.)
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Allelotyping by massively parallel pyrosequencing of SNP-carrying trinucleotide threads
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- Pettersson, Erik (author)
- KTH,Uppsala universitet,Institutionen för neurovetenskap,Funktionell Farmakologi,Genteknologi
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- Zajac, Pawel (author)
- KTH,Genteknologi
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- Ståhl, Patrik (author)
- KTH,Genteknologi
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- Ahmadian, Afshin (author)
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- (creator_code:org_t)
- Hindawi Limited, 2008
- 2008
- English.
- In: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 29:2, s. 323-329
- Journal article (peer-reviewed)
Abstract
Subject headings
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- Here we present an approach for allelotyping combining the multiplexing features of the trinucleotide threading (TnT) method with pooling of genomic DNA and massively parallel pyrosequencing, enabling reliable allele frequency estimation in large cohorts. The approach offers several benefits as compared to array-based methods and allows undertaking highly complex studies without compromising accuracy, while keeping the workload to a minimum. This proof-of-concept study involves formation of trinucleotide threads, targeting a total of 147 single-nucleotide polymorphisms (SNPs) related to obesity and cancer, for multiplex amplification and allele extraction from a pool of 462 genomes, followed by massively parallel pyrosequencing. Approximately 177k reads were approved, identified, and assigned to SNP-carrying threads rendering representative allele frequencies in the cohort.
Subject headings
- TEKNIK OCH TEKNOLOGIER -- Industriell bioteknik -- Annan industriell bioteknik (hsv//swe)
- ENGINEERING AND TECHNOLOGY -- Industrial Biotechnology -- Other Industrial Biotechnology (hsv//eng)
Keyword
- trinucleotide threading
- pooled genomic DNA
- association studies
- multiplexing
- SNP
- allelotyping
- cancer
- obesity
- MEDICINE
- MEDICIN
- Genetic engineering including functional genomics
Publication and Content Type
- ref (subject category)
- art (subject category)
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- Schiöth, Helgi B
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- Human Mutation
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- Uppsala University
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