Systematics for types and effects of DNA variations

Background Numerous different types of variations can occur in DNA and have diverse effects and consequences. The Variation Ontology (VariO) was developed for systematic descriptions of variations and their effects at DNA, RNA and protein levels. Results VariO use and terms for DNA variations are de...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Vihinen, Mauno [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2018

Schlagwörter:	DNA variations Mutation Variation Systematics Variation ontology VariO Annotation Databases Ontology

Anmerkung:	© The Author(s). 2018

Übergeordnetes Werk:	Enthalten in: BMC genomics - London : BioMed Central, 2000, 19(2018), 1 vom: 28. Dez.
Übergeordnetes Werk:	volume:19 ; year:2018 ; number:1 ; day:28 ; month:12

Links:	Volltext

DOI / URN:	10.1186/s12864-018-5262-0

Katalog-ID:	SPR027148017

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allfields	10.1186/s12864-018-5262-0 doi (DE-627)SPR027148017 (SPR)s12864-018-5262-0-e DE-627 ger DE-627 rakwb eng Vihinen, Mauno verfasserin (orcid)0000-0002-9614-7976 aut Systematics for types and effects of DNA variations 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Background Numerous different types of variations can occur in DNA and have diverse effects and consequences. The Variation Ontology (VariO) was developed for systematic descriptions of variations and their effects at DNA, RNA and protein levels. Results VariO use and terms for DNA variations are described in depth. VariO provides systematic names for variation types and detailed descriptions for changes in DNA function, structure and properties. The principles of VariO are presented along with examples from published articles or databases, most often in relation to human diseases. VariO terms describe local DNA changes, chromosome number and structure variants, chromatin alterations, as well as genomic changes, whether of genetic or non-genetic origin. Conclusions DNA variation systematics facilitates unambiguous descriptions of variations and their effects and further reuse and integration of data from different sources by both human and computers. DNA variations (dpeaa)DE-He213 Mutation (dpeaa)DE-He213 Variation (dpeaa)DE-He213 Systematics (dpeaa)DE-He213 Variation ontology (dpeaa)DE-He213 VariO (dpeaa)DE-He213 Annotation (dpeaa)DE-He213 Databases (dpeaa)DE-He213 Ontology (dpeaa)DE-He213 Enthalten in BMC genomics London : BioMed Central, 2000 19(2018), 1 vom: 28. Dez. (DE-627)326644954 (DE-600)2041499-7 1471-2164 nnns volume:19 year:2018 number:1 day:28 month:12 https://dx.doi.org/10.1186/s12864-018-5262-0 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_39 GBV_ILN_40 GBV_ILN_60 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_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 19 2018 1 28 12
spelling	10.1186/s12864-018-5262-0 doi (DE-627)SPR027148017 (SPR)s12864-018-5262-0-e DE-627 ger DE-627 rakwb eng Vihinen, Mauno verfasserin (orcid)0000-0002-9614-7976 aut Systematics for types and effects of DNA variations 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Background Numerous different types of variations can occur in DNA and have diverse effects and consequences. The Variation Ontology (VariO) was developed for systematic descriptions of variations and their effects at DNA, RNA and protein levels. Results VariO use and terms for DNA variations are described in depth. VariO provides systematic names for variation types and detailed descriptions for changes in DNA function, structure and properties. The principles of VariO are presented along with examples from published articles or databases, most often in relation to human diseases. VariO terms describe local DNA changes, chromosome number and structure variants, chromatin alterations, as well as genomic changes, whether of genetic or non-genetic origin. Conclusions DNA variation systematics facilitates unambiguous descriptions of variations and their effects and further reuse and integration of data from different sources by both human and computers. DNA variations (dpeaa)DE-He213 Mutation (dpeaa)DE-He213 Variation (dpeaa)DE-He213 Systematics (dpeaa)DE-He213 Variation ontology (dpeaa)DE-He213 VariO (dpeaa)DE-He213 Annotation (dpeaa)DE-He213 Databases (dpeaa)DE-He213 Ontology (dpeaa)DE-He213 Enthalten in BMC genomics London : BioMed Central, 2000 19(2018), 1 vom: 28. Dez. (DE-627)326644954 (DE-600)2041499-7 1471-2164 nnns volume:19 year:2018 number:1 day:28 month:12 https://dx.doi.org/10.1186/s12864-018-5262-0 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_39 GBV_ILN_40 GBV_ILN_60 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_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 19 2018 1 28 12
allfields_unstemmed	10.1186/s12864-018-5262-0 doi (DE-627)SPR027148017 (SPR)s12864-018-5262-0-e DE-627 ger DE-627 rakwb eng Vihinen, Mauno verfasserin (orcid)0000-0002-9614-7976 aut Systematics for types and effects of DNA variations 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Background Numerous different types of variations can occur in DNA and have diverse effects and consequences. The Variation Ontology (VariO) was developed for systematic descriptions of variations and their effects at DNA, RNA and protein levels. Results VariO use and terms for DNA variations are described in depth. VariO provides systematic names for variation types and detailed descriptions for changes in DNA function, structure and properties. The principles of VariO are presented along with examples from published articles or databases, most often in relation to human diseases. VariO terms describe local DNA changes, chromosome number and structure variants, chromatin alterations, as well as genomic changes, whether of genetic or non-genetic origin. Conclusions DNA variation systematics facilitates unambiguous descriptions of variations and their effects and further reuse and integration of data from different sources by both human and computers. DNA variations (dpeaa)DE-He213 Mutation (dpeaa)DE-He213 Variation (dpeaa)DE-He213 Systematics (dpeaa)DE-He213 Variation ontology (dpeaa)DE-He213 VariO (dpeaa)DE-He213 Annotation (dpeaa)DE-He213 Databases (dpeaa)DE-He213 Ontology (dpeaa)DE-He213 Enthalten in BMC genomics London : BioMed Central, 2000 19(2018), 1 vom: 28. Dez. (DE-627)326644954 (DE-600)2041499-7 1471-2164 nnns volume:19 year:2018 number:1 day:28 month:12 https://dx.doi.org/10.1186/s12864-018-5262-0 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_39 GBV_ILN_40 GBV_ILN_60 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_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 19 2018 1 28 12
allfieldsGer	10.1186/s12864-018-5262-0 doi (DE-627)SPR027148017 (SPR)s12864-018-5262-0-e DE-627 ger DE-627 rakwb eng Vihinen, Mauno verfasserin (orcid)0000-0002-9614-7976 aut Systematics for types and effects of DNA variations 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Background Numerous different types of variations can occur in DNA and have diverse effects and consequences. The Variation Ontology (VariO) was developed for systematic descriptions of variations and their effects at DNA, RNA and protein levels. Results VariO use and terms for DNA variations are described in depth. VariO provides systematic names for variation types and detailed descriptions for changes in DNA function, structure and properties. The principles of VariO are presented along with examples from published articles or databases, most often in relation to human diseases. VariO terms describe local DNA changes, chromosome number and structure variants, chromatin alterations, as well as genomic changes, whether of genetic or non-genetic origin. Conclusions DNA variation systematics facilitates unambiguous descriptions of variations and their effects and further reuse and integration of data from different sources by both human and computers. DNA variations (dpeaa)DE-He213 Mutation (dpeaa)DE-He213 Variation (dpeaa)DE-He213 Systematics (dpeaa)DE-He213 Variation ontology (dpeaa)DE-He213 VariO (dpeaa)DE-He213 Annotation (dpeaa)DE-He213 Databases (dpeaa)DE-He213 Ontology (dpeaa)DE-He213 Enthalten in BMC genomics London : BioMed Central, 2000 19(2018), 1 vom: 28. Dez. (DE-627)326644954 (DE-600)2041499-7 1471-2164 nnns volume:19 year:2018 number:1 day:28 month:12 https://dx.doi.org/10.1186/s12864-018-5262-0 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_39 GBV_ILN_40 GBV_ILN_60 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_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 19 2018 1 28 12
allfieldsSound	10.1186/s12864-018-5262-0 doi (DE-627)SPR027148017 (SPR)s12864-018-5262-0-e DE-627 ger DE-627 rakwb eng Vihinen, Mauno verfasserin (orcid)0000-0002-9614-7976 aut Systematics for types and effects of DNA variations 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Background Numerous different types of variations can occur in DNA and have diverse effects and consequences. The Variation Ontology (VariO) was developed for systematic descriptions of variations and their effects at DNA, RNA and protein levels. Results VariO use and terms for DNA variations are described in depth. VariO provides systematic names for variation types and detailed descriptions for changes in DNA function, structure and properties. The principles of VariO are presented along with examples from published articles or databases, most often in relation to human diseases. VariO terms describe local DNA changes, chromosome number and structure variants, chromatin alterations, as well as genomic changes, whether of genetic or non-genetic origin. Conclusions DNA variation systematics facilitates unambiguous descriptions of variations and their effects and further reuse and integration of data from different sources by both human and computers. DNA variations (dpeaa)DE-He213 Mutation (dpeaa)DE-He213 Variation (dpeaa)DE-He213 Systematics (dpeaa)DE-He213 Variation ontology (dpeaa)DE-He213 VariO (dpeaa)DE-He213 Annotation (dpeaa)DE-He213 Databases (dpeaa)DE-He213 Ontology (dpeaa)DE-He213 Enthalten in BMC genomics London : BioMed Central, 2000 19(2018), 1 vom: 28. Dez. (DE-627)326644954 (DE-600)2041499-7 1471-2164 nnns volume:19 year:2018 number:1 day:28 month:12 https://dx.doi.org/10.1186/s12864-018-5262-0 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_39 GBV_ILN_40 GBV_ILN_60 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_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 19 2018 1 28 12
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author	Vihinen, Mauno
spellingShingle	Vihinen, Mauno misc DNA variations misc Mutation misc Variation misc Systematics misc Variation ontology misc VariO misc Annotation misc Databases misc Ontology Systematics for types and effects of DNA variations
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topic_title	Systematics for types and effects of DNA variations DNA variations (dpeaa)DE-He213 Mutation (dpeaa)DE-He213 Variation (dpeaa)DE-He213 Systematics (dpeaa)DE-He213 Variation ontology (dpeaa)DE-He213 VariO (dpeaa)DE-He213 Annotation (dpeaa)DE-He213 Databases (dpeaa)DE-He213 Ontology (dpeaa)DE-He213
topic	misc DNA variations misc Mutation misc Variation misc Systematics misc Variation ontology misc VariO misc Annotation misc Databases misc Ontology
topic_unstemmed	misc DNA variations misc Mutation misc Variation misc Systematics misc Variation ontology misc VariO misc Annotation misc Databases misc Ontology
topic_browse	misc DNA variations misc Mutation misc Variation misc Systematics misc Variation ontology misc VariO misc Annotation misc Databases misc Ontology
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title	Systematics for types and effects of DNA variations
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title_full	Systematics for types and effects of DNA variations
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title_sort	systematics for types and effects of dna variations
title_auth	Systematics for types and effects of DNA variations
abstract	Background Numerous different types of variations can occur in DNA and have diverse effects and consequences. The Variation Ontology (VariO) was developed for systematic descriptions of variations and their effects at DNA, RNA and protein levels. Results VariO use and terms for DNA variations are described in depth. VariO provides systematic names for variation types and detailed descriptions for changes in DNA function, structure and properties. The principles of VariO are presented along with examples from published articles or databases, most often in relation to human diseases. VariO terms describe local DNA changes, chromosome number and structure variants, chromatin alterations, as well as genomic changes, whether of genetic or non-genetic origin. Conclusions DNA variation systematics facilitates unambiguous descriptions of variations and their effects and further reuse and integration of data from different sources by both human and computers. © The Author(s). 2018
abstractGer	Background Numerous different types of variations can occur in DNA and have diverse effects and consequences. The Variation Ontology (VariO) was developed for systematic descriptions of variations and their effects at DNA, RNA and protein levels. Results VariO use and terms for DNA variations are described in depth. VariO provides systematic names for variation types and detailed descriptions for changes in DNA function, structure and properties. The principles of VariO are presented along with examples from published articles or databases, most often in relation to human diseases. VariO terms describe local DNA changes, chromosome number and structure variants, chromatin alterations, as well as genomic changes, whether of genetic or non-genetic origin. Conclusions DNA variation systematics facilitates unambiguous descriptions of variations and their effects and further reuse and integration of data from different sources by both human and computers. © The Author(s). 2018
abstract_unstemmed	Background Numerous different types of variations can occur in DNA and have diverse effects and consequences. The Variation Ontology (VariO) was developed for systematic descriptions of variations and their effects at DNA, RNA and protein levels. Results VariO use and terms for DNA variations are described in depth. VariO provides systematic names for variation types and detailed descriptions for changes in DNA function, structure and properties. The principles of VariO are presented along with examples from published articles or databases, most often in relation to human diseases. VariO terms describe local DNA changes, chromosome number and structure variants, chromatin alterations, as well as genomic changes, whether of genetic or non-genetic origin. Conclusions DNA variation systematics facilitates unambiguous descriptions of variations and their effects and further reuse and integration of data from different sources by both human and computers. © The Author(s). 2018
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title_short	Systematics for types and effects of DNA variations
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The Variation Ontology (VariO) was developed for systematic descriptions of variations and their effects at DNA, RNA and protein levels. Results VariO use and terms for DNA variations are described in depth. VariO provides systematic names for variation types and detailed descriptions for changes in DNA function, structure and properties. The principles of VariO are presented along with examples from published articles or databases, most often in relation to human diseases. VariO terms describe local DNA changes, chromosome number and structure variants, chromatin alterations, as well as genomic changes, whether of genetic or non-genetic origin. 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Systematics for types and effects of DNA variations

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