CopywriteR: DNA copy number detection from off-target sequence data
Abstract Current methods for detection of copy number variants (CNV) and aberrations (CNA) from targeted sequencing data are based on the depth of coverage of captured exons. Accurate CNA determination is complicated by uneven genomic distribution and non-uniform capture efficiency of targeted exons...
Ausführliche Beschreibung
Autor*in: |
Kuilman, Thomas [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2015 |
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Anmerkung: |
© Kuilman et al.; licensee BioMed Central. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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Übergeordnetes Werk: |
Enthalten in: Genome biology - London : BioMed Central, 2000, 16(2015), 1 vom: 27. Feb. |
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Übergeordnetes Werk: |
volume:16 ; year:2015 ; number:1 ; day:27 ; month:02 |
Links: |
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DOI / URN: |
10.1186/s13059-015-0617-1 |
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Katalog-ID: |
SPR030022525 |
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520 | |a Abstract Current methods for detection of copy number variants (CNV) and aberrations (CNA) from targeted sequencing data are based on the depth of coverage of captured exons. Accurate CNA determination is complicated by uneven genomic distribution and non-uniform capture efficiency of targeted exons. Here we present CopywriteR, which eludes these problems by exploiting ‘off-target’ sequence reads. CopywriteR allows for extracting uniformly distributed copy number information, can be used without reference, and can be applied to sequencing data obtained from various techniques including chromatin immunoprecipitation and target enrichment on small gene panels. CopywriteR outperforms existing methods and constitutes a widely applicable alternative to available tools. | ||
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10.1186/s13059-015-0617-1 doi (DE-627)SPR030022525 (SPR)s13059-015-0617-1-e DE-627 ger DE-627 rakwb eng Kuilman, Thomas verfasserin aut CopywriteR: DNA copy number detection from off-target sequence data 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Kuilman et al.; licensee BioMed Central. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Current methods for detection of copy number variants (CNV) and aberrations (CNA) from targeted sequencing data are based on the depth of coverage of captured exons. Accurate CNA determination is complicated by uneven genomic distribution and non-uniform capture efficiency of targeted exons. Here we present CopywriteR, which eludes these problems by exploiting ‘off-target’ sequence reads. CopywriteR allows for extracting uniformly distributed copy number information, can be used without reference, and can be applied to sequencing data obtained from various techniques including chromatin immunoprecipitation and target enrichment on small gene panels. CopywriteR outperforms existing methods and constitutes a widely applicable alternative to available tools. Median Absolute Deviation (dpeaa)DE-He213 Copy Number Aberration (dpeaa)DE-He213 Copy Number State (dpeaa)DE-He213 Copy Number Profile (dpeaa)DE-He213 Copy Number Data (dpeaa)DE-He213 Velds, Arno aut Kemper, Kristel aut Ranzani, Marco aut Bombardelli, Lorenzo aut Hoogstraat, Marlous aut Nevedomskaya, Ekaterina aut Xu, Guotai aut de Ruiter, Julian aut Lolkema, Martijn P aut Ylstra, Bauke aut Jonkers, Jos aut Rottenberg, Sven aut Wessels, Lodewyk F aut Adams, David J aut Peeper, Daniel S aut Krijgsman, Oscar aut Enthalten in Genome biology London : BioMed Central, 2000 16(2015), 1 vom: 27. Feb. (DE-627)326173617 (DE-600)2040529-7 1474-760X nnns volume:16 year:2015 number:1 day:27 month:02 https://dx.doi.org/10.1186/s13059-015-0617-1 kostenfrei 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_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 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 16 2015 1 27 02 |
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10.1186/s13059-015-0617-1 doi (DE-627)SPR030022525 (SPR)s13059-015-0617-1-e DE-627 ger DE-627 rakwb eng Kuilman, Thomas verfasserin aut CopywriteR: DNA copy number detection from off-target sequence data 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Kuilman et al.; licensee BioMed Central. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Current methods for detection of copy number variants (CNV) and aberrations (CNA) from targeted sequencing data are based on the depth of coverage of captured exons. Accurate CNA determination is complicated by uneven genomic distribution and non-uniform capture efficiency of targeted exons. Here we present CopywriteR, which eludes these problems by exploiting ‘off-target’ sequence reads. CopywriteR allows for extracting uniformly distributed copy number information, can be used without reference, and can be applied to sequencing data obtained from various techniques including chromatin immunoprecipitation and target enrichment on small gene panels. CopywriteR outperforms existing methods and constitutes a widely applicable alternative to available tools. Median Absolute Deviation (dpeaa)DE-He213 Copy Number Aberration (dpeaa)DE-He213 Copy Number State (dpeaa)DE-He213 Copy Number Profile (dpeaa)DE-He213 Copy Number Data (dpeaa)DE-He213 Velds, Arno aut Kemper, Kristel aut Ranzani, Marco aut Bombardelli, Lorenzo aut Hoogstraat, Marlous aut Nevedomskaya, Ekaterina aut Xu, Guotai aut de Ruiter, Julian aut Lolkema, Martijn P aut Ylstra, Bauke aut Jonkers, Jos aut Rottenberg, Sven aut Wessels, Lodewyk F aut Adams, David J aut Peeper, Daniel S aut Krijgsman, Oscar aut Enthalten in Genome biology London : BioMed Central, 2000 16(2015), 1 vom: 27. Feb. (DE-627)326173617 (DE-600)2040529-7 1474-760X nnns volume:16 year:2015 number:1 day:27 month:02 https://dx.doi.org/10.1186/s13059-015-0617-1 kostenfrei 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_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 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 16 2015 1 27 02 |
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10.1186/s13059-015-0617-1 doi (DE-627)SPR030022525 (SPR)s13059-015-0617-1-e DE-627 ger DE-627 rakwb eng Kuilman, Thomas verfasserin aut CopywriteR: DNA copy number detection from off-target sequence data 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Kuilman et al.; licensee BioMed Central. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Current methods for detection of copy number variants (CNV) and aberrations (CNA) from targeted sequencing data are based on the depth of coverage of captured exons. Accurate CNA determination is complicated by uneven genomic distribution and non-uniform capture efficiency of targeted exons. Here we present CopywriteR, which eludes these problems by exploiting ‘off-target’ sequence reads. CopywriteR allows for extracting uniformly distributed copy number information, can be used without reference, and can be applied to sequencing data obtained from various techniques including chromatin immunoprecipitation and target enrichment on small gene panels. CopywriteR outperforms existing methods and constitutes a widely applicable alternative to available tools. Median Absolute Deviation (dpeaa)DE-He213 Copy Number Aberration (dpeaa)DE-He213 Copy Number State (dpeaa)DE-He213 Copy Number Profile (dpeaa)DE-He213 Copy Number Data (dpeaa)DE-He213 Velds, Arno aut Kemper, Kristel aut Ranzani, Marco aut Bombardelli, Lorenzo aut Hoogstraat, Marlous aut Nevedomskaya, Ekaterina aut Xu, Guotai aut de Ruiter, Julian aut Lolkema, Martijn P aut Ylstra, Bauke aut Jonkers, Jos aut Rottenberg, Sven aut Wessels, Lodewyk F aut Adams, David J aut Peeper, Daniel S aut Krijgsman, Oscar aut Enthalten in Genome biology London : BioMed Central, 2000 16(2015), 1 vom: 27. Feb. (DE-627)326173617 (DE-600)2040529-7 1474-760X nnns volume:16 year:2015 number:1 day:27 month:02 https://dx.doi.org/10.1186/s13059-015-0617-1 kostenfrei 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_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 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 16 2015 1 27 02 |
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10.1186/s13059-015-0617-1 doi (DE-627)SPR030022525 (SPR)s13059-015-0617-1-e DE-627 ger DE-627 rakwb eng Kuilman, Thomas verfasserin aut CopywriteR: DNA copy number detection from off-target sequence data 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Kuilman et al.; licensee BioMed Central. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Current methods for detection of copy number variants (CNV) and aberrations (CNA) from targeted sequencing data are based on the depth of coverage of captured exons. Accurate CNA determination is complicated by uneven genomic distribution and non-uniform capture efficiency of targeted exons. Here we present CopywriteR, which eludes these problems by exploiting ‘off-target’ sequence reads. CopywriteR allows for extracting uniformly distributed copy number information, can be used without reference, and can be applied to sequencing data obtained from various techniques including chromatin immunoprecipitation and target enrichment on small gene panels. CopywriteR outperforms existing methods and constitutes a widely applicable alternative to available tools. Median Absolute Deviation (dpeaa)DE-He213 Copy Number Aberration (dpeaa)DE-He213 Copy Number State (dpeaa)DE-He213 Copy Number Profile (dpeaa)DE-He213 Copy Number Data (dpeaa)DE-He213 Velds, Arno aut Kemper, Kristel aut Ranzani, Marco aut Bombardelli, Lorenzo aut Hoogstraat, Marlous aut Nevedomskaya, Ekaterina aut Xu, Guotai aut de Ruiter, Julian aut Lolkema, Martijn P aut Ylstra, Bauke aut Jonkers, Jos aut Rottenberg, Sven aut Wessels, Lodewyk F aut Adams, David J aut Peeper, Daniel S aut Krijgsman, Oscar aut Enthalten in Genome biology London : BioMed Central, 2000 16(2015), 1 vom: 27. Feb. (DE-627)326173617 (DE-600)2040529-7 1474-760X nnns volume:16 year:2015 number:1 day:27 month:02 https://dx.doi.org/10.1186/s13059-015-0617-1 kostenfrei 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_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 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 16 2015 1 27 02 |
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10.1186/s13059-015-0617-1 doi (DE-627)SPR030022525 (SPR)s13059-015-0617-1-e DE-627 ger DE-627 rakwb eng Kuilman, Thomas verfasserin aut CopywriteR: DNA copy number detection from off-target sequence data 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Kuilman et al.; licensee BioMed Central. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Current methods for detection of copy number variants (CNV) and aberrations (CNA) from targeted sequencing data are based on the depth of coverage of captured exons. Accurate CNA determination is complicated by uneven genomic distribution and non-uniform capture efficiency of targeted exons. Here we present CopywriteR, which eludes these problems by exploiting ‘off-target’ sequence reads. CopywriteR allows for extracting uniformly distributed copy number information, can be used without reference, and can be applied to sequencing data obtained from various techniques including chromatin immunoprecipitation and target enrichment on small gene panels. CopywriteR outperforms existing methods and constitutes a widely applicable alternative to available tools. Median Absolute Deviation (dpeaa)DE-He213 Copy Number Aberration (dpeaa)DE-He213 Copy Number State (dpeaa)DE-He213 Copy Number Profile (dpeaa)DE-He213 Copy Number Data (dpeaa)DE-He213 Velds, Arno aut Kemper, Kristel aut Ranzani, Marco aut Bombardelli, Lorenzo aut Hoogstraat, Marlous aut Nevedomskaya, Ekaterina aut Xu, Guotai aut de Ruiter, Julian aut Lolkema, Martijn P aut Ylstra, Bauke aut Jonkers, Jos aut Rottenberg, Sven aut Wessels, Lodewyk F aut Adams, David J aut Peeper, Daniel S aut Krijgsman, Oscar aut Enthalten in Genome biology London : BioMed Central, 2000 16(2015), 1 vom: 27. Feb. (DE-627)326173617 (DE-600)2040529-7 1474-760X nnns volume:16 year:2015 number:1 day:27 month:02 https://dx.doi.org/10.1186/s13059-015-0617-1 kostenfrei 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_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 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 16 2015 1 27 02 |
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Abstract Current methods for detection of copy number variants (CNV) and aberrations (CNA) from targeted sequencing data are based on the depth of coverage of captured exons. Accurate CNA determination is complicated by uneven genomic distribution and non-uniform capture efficiency of targeted exons. Here we present CopywriteR, which eludes these problems by exploiting ‘off-target’ sequence reads. CopywriteR allows for extracting uniformly distributed copy number information, can be used without reference, and can be applied to sequencing data obtained from various techniques including chromatin immunoprecipitation and target enrichment on small gene panels. CopywriteR outperforms existing methods and constitutes a widely applicable alternative to available tools. © Kuilman et al.; licensee BioMed Central. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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Abstract Current methods for detection of copy number variants (CNV) and aberrations (CNA) from targeted sequencing data are based on the depth of coverage of captured exons. Accurate CNA determination is complicated by uneven genomic distribution and non-uniform capture efficiency of targeted exons. Here we present CopywriteR, which eludes these problems by exploiting ‘off-target’ sequence reads. CopywriteR allows for extracting uniformly distributed copy number information, can be used without reference, and can be applied to sequencing data obtained from various techniques including chromatin immunoprecipitation and target enrichment on small gene panels. CopywriteR outperforms existing methods and constitutes a widely applicable alternative to available tools. © Kuilman et al.; licensee BioMed Central. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
abstract_unstemmed |
Abstract Current methods for detection of copy number variants (CNV) and aberrations (CNA) from targeted sequencing data are based on the depth of coverage of captured exons. Accurate CNA determination is complicated by uneven genomic distribution and non-uniform capture efficiency of targeted exons. Here we present CopywriteR, which eludes these problems by exploiting ‘off-target’ sequence reads. CopywriteR allows for extracting uniformly distributed copy number information, can be used without reference, and can be applied to sequencing data obtained from various techniques including chromatin immunoprecipitation and target enrichment on small gene panels. CopywriteR outperforms existing methods and constitutes a widely applicable alternative to available tools. © Kuilman et al.; licensee BioMed Central. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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This is an Open Access article distributed under the terms of the Creative Commons Attribution License (</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract Current methods for detection of copy number variants (CNV) and aberrations (CNA) from targeted sequencing data are based on the depth of coverage of captured exons. Accurate CNA determination is complicated by uneven genomic distribution and non-uniform capture efficiency of targeted exons. Here we present CopywriteR, which eludes these problems by exploiting ‘off-target’ sequence reads. CopywriteR allows for extracting uniformly distributed copy number information, can be used without reference, and can be applied to sequencing data obtained from various techniques including chromatin immunoprecipitation and target enrichment on small gene panels. 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