FAST-SeqS A Simple and Efficient Method for the Detection of Aneuploidy by Massively Parallel Sequencing 英文参考文献.docVIP

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FAST-SeqS A Simple and Efficient Method for the Detection of Aneuploidy by Massively Parallel Sequencing 英文参考文献.doc

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FAST-SeqS A Simple and Efficient Method for the Detection of Aneuploidy by Massively Parallel Sequencing 英文参考文献

FAST-SeqS:ASimpleandEfficientMethodforthe DetectionofAneuploidybyMassivelyParallel Sequencing IsaacKinde*,NickolasPapadopoulos,KennethW.Kinzler*,BertVogelstein TheLudwigCenterforCancerGeneticsandTherapeuticsandTheHowardHughesMedicalInstitute,JohnsHopkinsKimmelCancerCenter,Baltimore,Maryland,United StatesofAmerica Abstract Massively parallel sequencing of cell-free, maternal plasma DNA was recently demonstrated to be a safe and effective screening method for fetal chromosomal aneuploidies. Here, we report an improved sequencing method achieving significantlyincreasedthroughputanddecreasedcostbyreplacinglaborioussequencinglibrarypreparationstepswithPCR employing a single primer pair designed to amplify a discrete subset of repeated regions. Using this approach, samples containingaslittleas4%trisomy21DNAcouldbereadilydistinguishedfromeuploidsamples. Citation: Kinde I, Papadopoulos N, Kinzler KW, Vogelstein B (2012) FAST-SeqS: A Simple and Efficient Method for the Detection of Aneuploidy by Massively ParallelSequencing.PLoSONE7(7):e41162.doi:10.1371/journal.pone.0041162 Editor:ReinerAlbertVeitia,InstitutJacquesMonod,France ReceivedApril17,2012;AcceptedJune18,2012;PublishedJuly18,2012 Copyright: ? 2012 Kinde et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricteduse,distribution,andreproductioninanymedium,providedtheoriginalauthorandsourcearecredited. Funding: This work was supported by The Virginia and D.K. Ludwig Fund for Cancer Research, the National Institutes of Health (CA62924, CA43460, and CA57345), and by a UNCF-Merck Graduate Fellowship to I.K. The funders had no role in study design, data collection and analysis, decision to publish, or preparationofthemanuscript. CompetingInterests:Theauthorsdeclarethefollowingcompetinginterests.ThisstudywaspartiallyfundedbyaUNCF-MerckGraduateFellowship(toI.K.). N.P.,K.W.K,andB.V.areco-foundersofInosticsandPersonalGenomeDiagnosticsandaremembers