Novel approach for CES1 genotyping

integrating single nucleotide variants and structural variation

Ditte Bjerre, Henrik Berg Rasmussen, INDICES Consortium

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Aim: Development of a specific procedure for genotyping of CES1A1 (CES1) and CES1A2, a hybrid of CES1A1 and the pseudogene CES1P1. Materials & methods: The number of CES1A1 and CES1A2 copies and that of CES1P1 were determined using real-time PCR. Long range PCRs followed by secondary PCRs allowed sequencing of single nucleotide variants in CES1A1 and CES1A2. Results & conclusion: A procedure consisting of two main steps was developed. Its first main step, the copy number determination, informed about presence of CES1A2 . This information enabled choice of PCR in the second main step, which selectively amplified CES1A1 and, if present, also CES1A2, for subsequent sequencing. Examination of 501 DNA samples suggested that our procedure is specific with potential for personalization of drug treatments.
OriginalsprogEngelsk
TidsskriftPharmacogenomics
Vol/bind19
Udgave nummer4
Sider (fra-til)349-359
ISSN1462-2416
DOI
StatusUdgivet - 2018

Bibliografisk note

This article has been found as a ’Free Version’ from the Publisher on May 27 2019. When access to the article closes, please notify rucforsk@ruc.dk

Citer dette

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abstract = "Aim: Development of a specific procedure for genotyping of CES1A1 (CES1) and CES1A2, a hybrid of CES1A1 and the pseudogene CES1P1. Materials & methods: The number of CES1A1 and CES1A2 copies and that of CES1P1 were determined using real-time PCR. Long range PCRs followed by secondary PCRs allowed sequencing of single nucleotide variants in CES1A1 and CES1A2. Results & conclusion: A procedure consisting of two main steps was developed. Its first main step, the copy number determination, informed about presence of CES1A2 . This information enabled choice of PCR in the second main step, which selectively amplified CES1A1 and, if present, also CES1A2, for subsequent sequencing. Examination of 501 DNA samples suggested that our procedure is specific with potential for personalization of drug treatments.",
author = "Ditte Bjerre and Rasmussen, {Henrik Berg} and {INDICES Consortium}",
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Novel approach for CES1 genotyping : integrating single nucleotide variants and structural variation. / Bjerre, Ditte ; Rasmussen, Henrik Berg; INDICES Consortium.

I: Pharmacogenomics, Bind 19, Nr. 4, 2018, s. 349-359.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Novel approach for CES1 genotyping

T2 - integrating single nucleotide variants and structural variation

AU - Bjerre, Ditte

AU - Rasmussen, Henrik Berg

AU - INDICES Consortium

N1 - This article has been found as a ’Free Version’ from the Publisher on May 27 2019. When access to the article closes, please notify rucforsk@ruc.dk

PY - 2018

Y1 - 2018

N2 - Aim: Development of a specific procedure for genotyping of CES1A1 (CES1) and CES1A2, a hybrid of CES1A1 and the pseudogene CES1P1. Materials & methods: The number of CES1A1 and CES1A2 copies and that of CES1P1 were determined using real-time PCR. Long range PCRs followed by secondary PCRs allowed sequencing of single nucleotide variants in CES1A1 and CES1A2. Results & conclusion: A procedure consisting of two main steps was developed. Its first main step, the copy number determination, informed about presence of CES1A2 . This information enabled choice of PCR in the second main step, which selectively amplified CES1A1 and, if present, also CES1A2, for subsequent sequencing. Examination of 501 DNA samples suggested that our procedure is specific with potential for personalization of drug treatments.

AB - Aim: Development of a specific procedure for genotyping of CES1A1 (CES1) and CES1A2, a hybrid of CES1A1 and the pseudogene CES1P1. Materials & methods: The number of CES1A1 and CES1A2 copies and that of CES1P1 were determined using real-time PCR. Long range PCRs followed by secondary PCRs allowed sequencing of single nucleotide variants in CES1A1 and CES1A2. Results & conclusion: A procedure consisting of two main steps was developed. Its first main step, the copy number determination, informed about presence of CES1A2 . This information enabled choice of PCR in the second main step, which selectively amplified CES1A1 and, if present, also CES1A2, for subsequent sequencing. Examination of 501 DNA samples suggested that our procedure is specific with potential for personalization of drug treatments.

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DO - 10.2217/pgs-2016-0145

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JO - Pharmacogenomics

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SN - 1462-2416

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