Standard

Cost-effective multiplexing before capture allows screening of 25 000 clinically relevant SNPs in childhood acute lymphoblastic leukemia. / Wesolowska, Agata; Dalgaard, M. D.; Borst, L.; Gautier, Laurent; Bak, M.; Weinhold, Nils; Nielsen, B. F.; Helt, L. R.; Audouze, Karine Marie Laure; Nersting, J; Tommerup, N.; Brunak, Søren; Sicheritz-Pontén, Thomas; Leffers, H.; Schmiegelow, K.; Gupta, Ramneek.

In: Leukemia, Vol. 25, 2011, p. 1001-1006.

Publication: Research - peer-reviewJournal article – Annual report year: 2011

Harvard

APA

CBE

MLA

Vancouver

Author

Wesolowska, Agata; Dalgaard, M. D.; Borst, L.; Gautier, Laurent; Bak, M.; Weinhold, Nils; Nielsen, B. F.; Helt, L. R.; Audouze, Karine Marie Laure; Nersting, J; Tommerup, N.; Brunak, Søren; Sicheritz-Pontén, Thomas; Leffers, H.; Schmiegelow, K.; Gupta, Ramneek / Cost-effective multiplexing before capture allows screening of 25 000 clinically relevant SNPs in childhood acute lymphoblastic leukemia.

In: Leukemia, Vol. 25, 2011, p. 1001-1006.

Publication: Research - peer-reviewJournal article – Annual report year: 2011

Bibtex

@article{cfe04da9e442456a82046b8405d062d8,
title = "Cost-effective multiplexing before capture allows screening of 25 000 clinically relevant SNPs in childhood acute lymphoblastic leukemia",
keywords = "Target-enrichment, Clinically relevant SNPs, Childhood acute lymphoblastic leukemia, Multiplexed genotyping, Next-generation sequencing",
publisher = "Nature Publishing Group",
author = "Agata Wesolowska and Dalgaard, {M. D.} and L. Borst and Laurent Gautier and M. Bak and Nils Weinhold and Nielsen, {B. F.} and Helt, {L. R.} and Audouze, {Karine Marie Laure} and J Nersting and N. Tommerup and Søren Brunak and Thomas Sicheritz-Pontén and H. Leffers and K. Schmiegelow and Ramneek Gupta",
year = "2011",
doi = "10.1038/leu.2011.32",
volume = "25",
pages = "1001--1006",
journal = "Leukemia",
issn = "0887-6924",

}

RIS

TY - JOUR

T1 - Cost-effective multiplexing before capture allows screening of 25 000 clinically relevant SNPs in childhood acute lymphoblastic leukemia

A1 - Wesolowska,Agata

A1 - Dalgaard,M. D.

A1 - Borst,L.

A1 - Gautier,Laurent

A1 - Bak,M.

A1 - Weinhold,Nils

A1 - Nielsen,B. F.

A1 - Helt,L. R.

A1 - Audouze,Karine Marie Laure

A1 - Nersting,J

A1 - Tommerup,N.

A1 - Brunak,Søren

A1 - Sicheritz-Pontén,Thomas

A1 - Leffers,H.

A1 - Schmiegelow,K.

A1 - Gupta,Ramneek

AU - Wesolowska,Agata

AU - Dalgaard,M. D.

AU - Borst,L.

AU - Gautier,Laurent

AU - Bak,M.

AU - Weinhold,Nils

AU - Nielsen,B. F.

AU - Helt,L. R.

AU - Audouze,Karine Marie Laure

AU - Nersting,J

AU - Tommerup,N.

AU - Brunak,Søren

AU - Sicheritz-Pontén,Thomas

AU - Leffers,H.

AU - Schmiegelow,K.

AU - Gupta,Ramneek

PB - Nature Publishing Group

PY - 2011

Y1 - 2011

N2 - Genetic variants, including single-nucleotide polymorphisms (SNPs), are key determiners of interindividual differences in treatment efficacy and toxicity in childhood acute lymphoblastic leukemia (ALL). Although up to 13 chemotherapeutic agents are used in the treatment of this cancer, it remains a model disease for exploring the impact of genetic variation due to well-characterized cytogenetics, drug response pathways and precise monitoring of minimal residual disease. Here, we have selected clinically relevant genes and SNPs through literature screening, and on the basis of associations with key pathways, protein-protein interactions or downstream partners that have a role in drug disposition and treatment efficacy in childhood ALL. This allows exploration of pathways, where one of several genetic variants may lead to similar clinical phenotypes through related molecular mechanisms. We have designed a cost-effective, high-throughput capture assay of â¼25â000 clinically relevant SNPs, and demonstrated that multiple samples can be tagged and pooled before genome capture in targeted enrichment with a sufficient sequencing depth for genotyping. This multiplexed, targeted sequencing method allows exploration of the impact of pharmacogenetics on efficacy and toxicity in childhood ALL treatment, which will be of importance for personalized chemotherapy.Leukemia advance online publication, 18 March 2011; doi:10.1038/leu.2011.32.

AB - Genetic variants, including single-nucleotide polymorphisms (SNPs), are key determiners of interindividual differences in treatment efficacy and toxicity in childhood acute lymphoblastic leukemia (ALL). Although up to 13 chemotherapeutic agents are used in the treatment of this cancer, it remains a model disease for exploring the impact of genetic variation due to well-characterized cytogenetics, drug response pathways and precise monitoring of minimal residual disease. Here, we have selected clinically relevant genes and SNPs through literature screening, and on the basis of associations with key pathways, protein-protein interactions or downstream partners that have a role in drug disposition and treatment efficacy in childhood ALL. This allows exploration of pathways, where one of several genetic variants may lead to similar clinical phenotypes through related molecular mechanisms. We have designed a cost-effective, high-throughput capture assay of â¼25â000 clinically relevant SNPs, and demonstrated that multiple samples can be tagged and pooled before genome capture in targeted enrichment with a sufficient sequencing depth for genotyping. This multiplexed, targeted sequencing method allows exploration of the impact of pharmacogenetics on efficacy and toxicity in childhood ALL treatment, which will be of importance for personalized chemotherapy.Leukemia advance online publication, 18 March 2011; doi:10.1038/leu.2011.32.

KW - Target-enrichment

KW - Clinically relevant SNPs

KW - Childhood acute lymphoblastic leukemia

KW - Multiplexed genotyping

KW - Next-generation sequencing

U2 - 10.1038/leu.2011.32

DO - 10.1038/leu.2011.32

JO - Leukemia

JF - Leukemia

SN - 0887-6924

VL - 25

SP - 1001

EP - 1006

ER -