Targeted next-generation sequencing for routine clinical screening of mutations

Abstract In many fields it is now desirable to sequence large panels of genes for mutation, to aid management of patients. The need for extensive sample preparation means that current approaches for assessing mutation status in the clinical setting are limited. A recent publication demonstrates a si...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Weaver, Jamie MJ [verfasserIn] Edwards, Paul AW

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2011

Schlagwörter:	Chronic Myeloid Leukemia Sanger Sequencing Single Disease Entity Limited Sample Preparation Initial Sample Preparation

Anmerkung:	© BioMed Central Ltd 2011

Übergeordnetes Werk:	Enthalten in: Genome medicine - London : BioMed Central, 2009, 3(2011), 9 vom: 12. Sept.
Übergeordnetes Werk:	volume:3 ; year:2011 ; number:9 ; day:12 ; month:09

Links:	Volltext

DOI / URN:	10.1186/gm274

Katalog-ID:	SPR030582679

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allfields	10.1186/gm274 doi (DE-627)SPR030582679 (SPR)gm274-e DE-627 ger DE-627 rakwb eng Weaver, Jamie MJ verfasserin aut Targeted next-generation sequencing for routine clinical screening of mutations 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © BioMed Central Ltd 2011 Abstract In many fields it is now desirable to sequence large panels of genes for mutation, to aid management of patients. The need for extensive sample preparation means that current approaches for assessing mutation status in the clinical setting are limited. A recent publication demonstrates a single-step, targeted, true single-molecule sequencing approach to assessing the mutational status of BRCA1. Fragmented DNA samples are loaded directly onto a flow cell and sequenced, thus detecting both small- and large-scale mutations with minimal sample preparation and high accuracy. Chronic Myeloid Leukemia (dpeaa)DE-He213 Sanger Sequencing (dpeaa)DE-He213 Single Disease Entity (dpeaa)DE-He213 Limited Sample Preparation (dpeaa)DE-He213 Initial Sample Preparation (dpeaa)DE-He213 Edwards, Paul AW aut Enthalten in Genome medicine London : BioMed Central, 2009 3(2011), 9 vom: 12. Sept. (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:3 year:2011 number:9 day:12 month:09 https://dx.doi.org/10.1186/gm274 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 3 2011 9 12 09
spelling	10.1186/gm274 doi (DE-627)SPR030582679 (SPR)gm274-e DE-627 ger DE-627 rakwb eng Weaver, Jamie MJ verfasserin aut Targeted next-generation sequencing for routine clinical screening of mutations 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © BioMed Central Ltd 2011 Abstract In many fields it is now desirable to sequence large panels of genes for mutation, to aid management of patients. The need for extensive sample preparation means that current approaches for assessing mutation status in the clinical setting are limited. A recent publication demonstrates a single-step, targeted, true single-molecule sequencing approach to assessing the mutational status of BRCA1. Fragmented DNA samples are loaded directly onto a flow cell and sequenced, thus detecting both small- and large-scale mutations with minimal sample preparation and high accuracy. Chronic Myeloid Leukemia (dpeaa)DE-He213 Sanger Sequencing (dpeaa)DE-He213 Single Disease Entity (dpeaa)DE-He213 Limited Sample Preparation (dpeaa)DE-He213 Initial Sample Preparation (dpeaa)DE-He213 Edwards, Paul AW aut Enthalten in Genome medicine London : BioMed Central, 2009 3(2011), 9 vom: 12. Sept. (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:3 year:2011 number:9 day:12 month:09 https://dx.doi.org/10.1186/gm274 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 3 2011 9 12 09
allfields_unstemmed	10.1186/gm274 doi (DE-627)SPR030582679 (SPR)gm274-e DE-627 ger DE-627 rakwb eng Weaver, Jamie MJ verfasserin aut Targeted next-generation sequencing for routine clinical screening of mutations 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © BioMed Central Ltd 2011 Abstract In many fields it is now desirable to sequence large panels of genes for mutation, to aid management of patients. The need for extensive sample preparation means that current approaches for assessing mutation status in the clinical setting are limited. A recent publication demonstrates a single-step, targeted, true single-molecule sequencing approach to assessing the mutational status of BRCA1. Fragmented DNA samples are loaded directly onto a flow cell and sequenced, thus detecting both small- and large-scale mutations with minimal sample preparation and high accuracy. Chronic Myeloid Leukemia (dpeaa)DE-He213 Sanger Sequencing (dpeaa)DE-He213 Single Disease Entity (dpeaa)DE-He213 Limited Sample Preparation (dpeaa)DE-He213 Initial Sample Preparation (dpeaa)DE-He213 Edwards, Paul AW aut Enthalten in Genome medicine London : BioMed Central, 2009 3(2011), 9 vom: 12. Sept. (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:3 year:2011 number:9 day:12 month:09 https://dx.doi.org/10.1186/gm274 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 3 2011 9 12 09
allfieldsGer	10.1186/gm274 doi (DE-627)SPR030582679 (SPR)gm274-e DE-627 ger DE-627 rakwb eng Weaver, Jamie MJ verfasserin aut Targeted next-generation sequencing for routine clinical screening of mutations 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © BioMed Central Ltd 2011 Abstract In many fields it is now desirable to sequence large panels of genes for mutation, to aid management of patients. The need for extensive sample preparation means that current approaches for assessing mutation status in the clinical setting are limited. A recent publication demonstrates a single-step, targeted, true single-molecule sequencing approach to assessing the mutational status of BRCA1. Fragmented DNA samples are loaded directly onto a flow cell and sequenced, thus detecting both small- and large-scale mutations with minimal sample preparation and high accuracy. Chronic Myeloid Leukemia (dpeaa)DE-He213 Sanger Sequencing (dpeaa)DE-He213 Single Disease Entity (dpeaa)DE-He213 Limited Sample Preparation (dpeaa)DE-He213 Initial Sample Preparation (dpeaa)DE-He213 Edwards, Paul AW aut Enthalten in Genome medicine London : BioMed Central, 2009 3(2011), 9 vom: 12. Sept. (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:3 year:2011 number:9 day:12 month:09 https://dx.doi.org/10.1186/gm274 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 3 2011 9 12 09
allfieldsSound	10.1186/gm274 doi (DE-627)SPR030582679 (SPR)gm274-e DE-627 ger DE-627 rakwb eng Weaver, Jamie MJ verfasserin aut Targeted next-generation sequencing for routine clinical screening of mutations 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © BioMed Central Ltd 2011 Abstract In many fields it is now desirable to sequence large panels of genes for mutation, to aid management of patients. The need for extensive sample preparation means that current approaches for assessing mutation status in the clinical setting are limited. A recent publication demonstrates a single-step, targeted, true single-molecule sequencing approach to assessing the mutational status of BRCA1. Fragmented DNA samples are loaded directly onto a flow cell and sequenced, thus detecting both small- and large-scale mutations with minimal sample preparation and high accuracy. Chronic Myeloid Leukemia (dpeaa)DE-He213 Sanger Sequencing (dpeaa)DE-He213 Single Disease Entity (dpeaa)DE-He213 Limited Sample Preparation (dpeaa)DE-He213 Initial Sample Preparation (dpeaa)DE-He213 Edwards, Paul AW aut Enthalten in Genome medicine London : BioMed Central, 2009 3(2011), 9 vom: 12. Sept. (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:3 year:2011 number:9 day:12 month:09 https://dx.doi.org/10.1186/gm274 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 3 2011 9 12 09
language	English
source	Enthalten in Genome medicine 3(2011), 9 vom: 12. Sept. volume:3 year:2011 number:9 day:12 month:09
sourceStr	Enthalten in Genome medicine 3(2011), 9 vom: 12. Sept. volume:3 year:2011 number:9 day:12 month:09
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Chronic Myeloid Leukemia Sanger Sequencing Single Disease Entity Limited Sample Preparation Initial Sample Preparation
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container_title	Genome medicine
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author	Weaver, Jamie MJ
spellingShingle	Weaver, Jamie MJ misc Chronic Myeloid Leukemia misc Sanger Sequencing misc Single Disease Entity misc Limited Sample Preparation misc Initial Sample Preparation Targeted next-generation sequencing for routine clinical screening of mutations
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topic_title	Targeted next-generation sequencing for routine clinical screening of mutations Chronic Myeloid Leukemia (dpeaa)DE-He213 Sanger Sequencing (dpeaa)DE-He213 Single Disease Entity (dpeaa)DE-He213 Limited Sample Preparation (dpeaa)DE-He213 Initial Sample Preparation (dpeaa)DE-He213
topic	misc Chronic Myeloid Leukemia misc Sanger Sequencing misc Single Disease Entity misc Limited Sample Preparation misc Initial Sample Preparation
topic_unstemmed	misc Chronic Myeloid Leukemia misc Sanger Sequencing misc Single Disease Entity misc Limited Sample Preparation misc Initial Sample Preparation
topic_browse	misc Chronic Myeloid Leukemia misc Sanger Sequencing misc Single Disease Entity misc Limited Sample Preparation misc Initial Sample Preparation
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title	Targeted next-generation sequencing for routine clinical screening of mutations
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title_full	Targeted next-generation sequencing for routine clinical screening of mutations
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title_sort	targeted next-generation sequencing for routine clinical screening of mutations
title_auth	Targeted next-generation sequencing for routine clinical screening of mutations
abstract	Abstract In many fields it is now desirable to sequence large panels of genes for mutation, to aid management of patients. The need for extensive sample preparation means that current approaches for assessing mutation status in the clinical setting are limited. A recent publication demonstrates a single-step, targeted, true single-molecule sequencing approach to assessing the mutational status of BRCA1. Fragmented DNA samples are loaded directly onto a flow cell and sequenced, thus detecting both small- and large-scale mutations with minimal sample preparation and high accuracy. © BioMed Central Ltd 2011
abstractGer	Abstract In many fields it is now desirable to sequence large panels of genes for mutation, to aid management of patients. The need for extensive sample preparation means that current approaches for assessing mutation status in the clinical setting are limited. A recent publication demonstrates a single-step, targeted, true single-molecule sequencing approach to assessing the mutational status of BRCA1. Fragmented DNA samples are loaded directly onto a flow cell and sequenced, thus detecting both small- and large-scale mutations with minimal sample preparation and high accuracy. © BioMed Central Ltd 2011
abstract_unstemmed	Abstract In many fields it is now desirable to sequence large panels of genes for mutation, to aid management of patients. The need for extensive sample preparation means that current approaches for assessing mutation status in the clinical setting are limited. A recent publication demonstrates a single-step, targeted, true single-molecule sequencing approach to assessing the mutational status of BRCA1. Fragmented DNA samples are loaded directly onto a flow cell and sequenced, thus detecting both small- and large-scale mutations with minimal sample preparation and high accuracy. © BioMed Central Ltd 2011
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title_short	Targeted next-generation sequencing for routine clinical screening of mutations
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up_date	2024-07-03T18:49:37.015Z
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