Locus Reference Genomic sequences: an improved basis for describing human DNA variants
Abstract As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disease-causing gene variants has become increasingly problematic. In part, this is due to current reference DNA sequen...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Dalgleish, Raymond [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2010 |
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| Schlagwörter: |
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| Anmerkung: |
© Dalgleish et al.; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. 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 medicine - London : BioMed Central, 2009, 2(2010), 4 vom: 15. Apr. |
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| Übergeordnetes Werk: |
volume:2 ; year:2010 ; number:4 ; day:15 ; month:04 |
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| DOI / URN: |
10.1186/gm145 |
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| Katalog-ID: |
SPR030568897 |
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| 520 | |a Abstract As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disease-causing gene variants has become increasingly problematic. In part, this is due to current reference DNA sequence formats that do not fully meet present needs. Here we present the Locus Reference Genomic (LRG) sequence format, which has been designed for the specific purpose of gene variant reporting. The format builds on the successful National Center for Biotechnology Information (NCBI) RefSeqGene project and provides a single-file record containing a uniquely stable reference DNA sequence along with all relevant transcript and protein sequences essential to the description of gene variants. In principle, LRGs can be created for any organism, not just human. In addition, we recognize the need to respect legacy numbering systems for exons and amino acids and the LRG format takes account of these. We hope that widespread adoption of LRGs - which will be created and maintained by the NCBI and the European Bioinformatics Institute (EBI) - along with consistent use of the Human Genome Variation Society (HGVS)-approved variant nomenclature will reduce errors in the reporting of variants in the literature and improve communication about variants affecting human health. Further information can be found on the LRG web site: http://www.lrg-sequence.org. | ||
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| 700 | 1 | |a Flicek, Paul |4 aut | |
| 700 | 1 | |a Cunningham, Fiona |4 aut | |
| 700 | 1 | |a Astashyn, Alex |4 aut | |
| 700 | 1 | |a Tully, Raymond E |4 aut | |
| 700 | 1 | |a Proctor, Glenn |4 aut | |
| 700 | 1 | |a Chen, Yuan |4 aut | |
| 700 | 1 | |a McLaren, William M |4 aut | |
| 700 | 1 | |a Larsson, Pontus |4 aut | |
| 700 | 1 | |a Vaughan, Brendan W |4 aut | |
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| 700 | 1 | |a Lehväslaiho, Heikki |4 aut | |
| 700 | 1 | |a Taschner, Peter EM |4 aut | |
| 700 | 1 | |a den Dunnen, Johan T |4 aut | |
| 700 | 1 | |a Devereau, Andrew |4 aut | |
| 700 | 1 | |a Birney, Ewan |4 aut | |
| 700 | 1 | |a Brookes, Anthony J |4 aut | |
| 700 | 1 | |a Maglott, Donna R |4 aut | |
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10.1186/gm145 doi (DE-627)SPR030568897 (SPR)gm145-e DE-627 ger DE-627 rakwb eng Dalgleish, Raymond verfasserin aut Locus Reference Genomic sequences: an improved basis for describing human DNA variants 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Dalgleish et al.; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( Abstract As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disease-causing gene variants has become increasingly problematic. In part, this is due to current reference DNA sequence formats that do not fully meet present needs. Here we present the Locus Reference Genomic (LRG) sequence format, which has been designed for the specific purpose of gene variant reporting. The format builds on the successful National Center for Biotechnology Information (NCBI) RefSeqGene project and provides a single-file record containing a uniquely stable reference DNA sequence along with all relevant transcript and protein sequences essential to the description of gene variants. In principle, LRGs can be created for any organism, not just human. In addition, we recognize the need to respect legacy numbering systems for exons and amino acids and the LRG format takes account of these. We hope that widespread adoption of LRGs - which will be created and maintained by the NCBI and the European Bioinformatics Institute (EBI) - along with consistent use of the Human Genome Variation Society (HGVS)-approved variant nomenclature will reduce errors in the reporting of variants in the literature and improve communication about variants affecting human health. Further information can be found on the LRG web site: http://www.lrg-sequence.org. Reference Sequence (dpeaa)DE-He213 Genomic Reference Sequence (dpeaa)DE-He213 European Bioinformatics Institute (dpeaa)DE-He213 Sequence Record (dpeaa)DE-He213 Human Genome Variation Society (dpeaa)DE-He213 Flicek, Paul aut Cunningham, Fiona aut Astashyn, Alex aut Tully, Raymond E aut Proctor, Glenn aut Chen, Yuan aut McLaren, William M aut Larsson, Pontus aut Vaughan, Brendan W aut Béroud, Christophe aut Dobson, Glen aut Lehväslaiho, Heikki aut Taschner, Peter EM aut den Dunnen, Johan T aut Devereau, Andrew aut Birney, Ewan aut Brookes, Anthony J aut Maglott, Donna R aut Enthalten in Genome medicine London : BioMed Central, 2009 2(2010), 4 vom: 15. Apr. (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:2 year:2010 number:4 day:15 month:04 https://dx.doi.org/10.1186/gm145 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_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 2 2010 4 15 04 |
| spelling |
10.1186/gm145 doi (DE-627)SPR030568897 (SPR)gm145-e DE-627 ger DE-627 rakwb eng Dalgleish, Raymond verfasserin aut Locus Reference Genomic sequences: an improved basis for describing human DNA variants 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Dalgleish et al.; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( Abstract As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disease-causing gene variants has become increasingly problematic. In part, this is due to current reference DNA sequence formats that do not fully meet present needs. Here we present the Locus Reference Genomic (LRG) sequence format, which has been designed for the specific purpose of gene variant reporting. The format builds on the successful National Center for Biotechnology Information (NCBI) RefSeqGene project and provides a single-file record containing a uniquely stable reference DNA sequence along with all relevant transcript and protein sequences essential to the description of gene variants. In principle, LRGs can be created for any organism, not just human. In addition, we recognize the need to respect legacy numbering systems for exons and amino acids and the LRG format takes account of these. We hope that widespread adoption of LRGs - which will be created and maintained by the NCBI and the European Bioinformatics Institute (EBI) - along with consistent use of the Human Genome Variation Society (HGVS)-approved variant nomenclature will reduce errors in the reporting of variants in the literature and improve communication about variants affecting human health. Further information can be found on the LRG web site: http://www.lrg-sequence.org. Reference Sequence (dpeaa)DE-He213 Genomic Reference Sequence (dpeaa)DE-He213 European Bioinformatics Institute (dpeaa)DE-He213 Sequence Record (dpeaa)DE-He213 Human Genome Variation Society (dpeaa)DE-He213 Flicek, Paul aut Cunningham, Fiona aut Astashyn, Alex aut Tully, Raymond E aut Proctor, Glenn aut Chen, Yuan aut McLaren, William M aut Larsson, Pontus aut Vaughan, Brendan W aut Béroud, Christophe aut Dobson, Glen aut Lehväslaiho, Heikki aut Taschner, Peter EM aut den Dunnen, Johan T aut Devereau, Andrew aut Birney, Ewan aut Brookes, Anthony J aut Maglott, Donna R aut Enthalten in Genome medicine London : BioMed Central, 2009 2(2010), 4 vom: 15. Apr. (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:2 year:2010 number:4 day:15 month:04 https://dx.doi.org/10.1186/gm145 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_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 2 2010 4 15 04 |
| allfields_unstemmed |
10.1186/gm145 doi (DE-627)SPR030568897 (SPR)gm145-e DE-627 ger DE-627 rakwb eng Dalgleish, Raymond verfasserin aut Locus Reference Genomic sequences: an improved basis for describing human DNA variants 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Dalgleish et al.; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( Abstract As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disease-causing gene variants has become increasingly problematic. In part, this is due to current reference DNA sequence formats that do not fully meet present needs. Here we present the Locus Reference Genomic (LRG) sequence format, which has been designed for the specific purpose of gene variant reporting. The format builds on the successful National Center for Biotechnology Information (NCBI) RefSeqGene project and provides a single-file record containing a uniquely stable reference DNA sequence along with all relevant transcript and protein sequences essential to the description of gene variants. In principle, LRGs can be created for any organism, not just human. In addition, we recognize the need to respect legacy numbering systems for exons and amino acids and the LRG format takes account of these. We hope that widespread adoption of LRGs - which will be created and maintained by the NCBI and the European Bioinformatics Institute (EBI) - along with consistent use of the Human Genome Variation Society (HGVS)-approved variant nomenclature will reduce errors in the reporting of variants in the literature and improve communication about variants affecting human health. Further information can be found on the LRG web site: http://www.lrg-sequence.org. Reference Sequence (dpeaa)DE-He213 Genomic Reference Sequence (dpeaa)DE-He213 European Bioinformatics Institute (dpeaa)DE-He213 Sequence Record (dpeaa)DE-He213 Human Genome Variation Society (dpeaa)DE-He213 Flicek, Paul aut Cunningham, Fiona aut Astashyn, Alex aut Tully, Raymond E aut Proctor, Glenn aut Chen, Yuan aut McLaren, William M aut Larsson, Pontus aut Vaughan, Brendan W aut Béroud, Christophe aut Dobson, Glen aut Lehväslaiho, Heikki aut Taschner, Peter EM aut den Dunnen, Johan T aut Devereau, Andrew aut Birney, Ewan aut Brookes, Anthony J aut Maglott, Donna R aut Enthalten in Genome medicine London : BioMed Central, 2009 2(2010), 4 vom: 15. Apr. (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:2 year:2010 number:4 day:15 month:04 https://dx.doi.org/10.1186/gm145 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_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 2 2010 4 15 04 |
| allfieldsGer |
10.1186/gm145 doi (DE-627)SPR030568897 (SPR)gm145-e DE-627 ger DE-627 rakwb eng Dalgleish, Raymond verfasserin aut Locus Reference Genomic sequences: an improved basis for describing human DNA variants 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Dalgleish et al.; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( Abstract As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disease-causing gene variants has become increasingly problematic. In part, this is due to current reference DNA sequence formats that do not fully meet present needs. Here we present the Locus Reference Genomic (LRG) sequence format, which has been designed for the specific purpose of gene variant reporting. The format builds on the successful National Center for Biotechnology Information (NCBI) RefSeqGene project and provides a single-file record containing a uniquely stable reference DNA sequence along with all relevant transcript and protein sequences essential to the description of gene variants. In principle, LRGs can be created for any organism, not just human. In addition, we recognize the need to respect legacy numbering systems for exons and amino acids and the LRG format takes account of these. We hope that widespread adoption of LRGs - which will be created and maintained by the NCBI and the European Bioinformatics Institute (EBI) - along with consistent use of the Human Genome Variation Society (HGVS)-approved variant nomenclature will reduce errors in the reporting of variants in the literature and improve communication about variants affecting human health. Further information can be found on the LRG web site: http://www.lrg-sequence.org. Reference Sequence (dpeaa)DE-He213 Genomic Reference Sequence (dpeaa)DE-He213 European Bioinformatics Institute (dpeaa)DE-He213 Sequence Record (dpeaa)DE-He213 Human Genome Variation Society (dpeaa)DE-He213 Flicek, Paul aut Cunningham, Fiona aut Astashyn, Alex aut Tully, Raymond E aut Proctor, Glenn aut Chen, Yuan aut McLaren, William M aut Larsson, Pontus aut Vaughan, Brendan W aut Béroud, Christophe aut Dobson, Glen aut Lehväslaiho, Heikki aut Taschner, Peter EM aut den Dunnen, Johan T aut Devereau, Andrew aut Birney, Ewan aut Brookes, Anthony J aut Maglott, Donna R aut Enthalten in Genome medicine London : BioMed Central, 2009 2(2010), 4 vom: 15. Apr. (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:2 year:2010 number:4 day:15 month:04 https://dx.doi.org/10.1186/gm145 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_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 2 2010 4 15 04 |
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10.1186/gm145 doi (DE-627)SPR030568897 (SPR)gm145-e DE-627 ger DE-627 rakwb eng Dalgleish, Raymond verfasserin aut Locus Reference Genomic sequences: an improved basis for describing human DNA variants 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Dalgleish et al.; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( Abstract As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disease-causing gene variants has become increasingly problematic. In part, this is due to current reference DNA sequence formats that do not fully meet present needs. Here we present the Locus Reference Genomic (LRG) sequence format, which has been designed for the specific purpose of gene variant reporting. The format builds on the successful National Center for Biotechnology Information (NCBI) RefSeqGene project and provides a single-file record containing a uniquely stable reference DNA sequence along with all relevant transcript and protein sequences essential to the description of gene variants. In principle, LRGs can be created for any organism, not just human. In addition, we recognize the need to respect legacy numbering systems for exons and amino acids and the LRG format takes account of these. We hope that widespread adoption of LRGs - which will be created and maintained by the NCBI and the European Bioinformatics Institute (EBI) - along with consistent use of the Human Genome Variation Society (HGVS)-approved variant nomenclature will reduce errors in the reporting of variants in the literature and improve communication about variants affecting human health. Further information can be found on the LRG web site: http://www.lrg-sequence.org. Reference Sequence (dpeaa)DE-He213 Genomic Reference Sequence (dpeaa)DE-He213 European Bioinformatics Institute (dpeaa)DE-He213 Sequence Record (dpeaa)DE-He213 Human Genome Variation Society (dpeaa)DE-He213 Flicek, Paul aut Cunningham, Fiona aut Astashyn, Alex aut Tully, Raymond E aut Proctor, Glenn aut Chen, Yuan aut McLaren, William M aut Larsson, Pontus aut Vaughan, Brendan W aut Béroud, Christophe aut Dobson, Glen aut Lehväslaiho, Heikki aut Taschner, Peter EM aut den Dunnen, Johan T aut Devereau, Andrew aut Birney, Ewan aut Brookes, Anthony J aut Maglott, Donna R aut Enthalten in Genome medicine London : BioMed Central, 2009 2(2010), 4 vom: 15. Apr. (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:2 year:2010 number:4 day:15 month:04 https://dx.doi.org/10.1186/gm145 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_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 2 2010 4 15 04 |
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Locus Reference Genomic sequences: an improved basis for describing human DNA variants |
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Abstract As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disease-causing gene variants has become increasingly problematic. In part, this is due to current reference DNA sequence formats that do not fully meet present needs. Here we present the Locus Reference Genomic (LRG) sequence format, which has been designed for the specific purpose of gene variant reporting. The format builds on the successful National Center for Biotechnology Information (NCBI) RefSeqGene project and provides a single-file record containing a uniquely stable reference DNA sequence along with all relevant transcript and protein sequences essential to the description of gene variants. In principle, LRGs can be created for any organism, not just human. In addition, we recognize the need to respect legacy numbering systems for exons and amino acids and the LRG format takes account of these. We hope that widespread adoption of LRGs - which will be created and maintained by the NCBI and the European Bioinformatics Institute (EBI) - along with consistent use of the Human Genome Variation Society (HGVS)-approved variant nomenclature will reduce errors in the reporting of variants in the literature and improve communication about variants affecting human health. Further information can be found on the LRG web site: http://www.lrg-sequence.org. © Dalgleish et al.; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( |
| abstractGer |
Abstract As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disease-causing gene variants has become increasingly problematic. In part, this is due to current reference DNA sequence formats that do not fully meet present needs. Here we present the Locus Reference Genomic (LRG) sequence format, which has been designed for the specific purpose of gene variant reporting. The format builds on the successful National Center for Biotechnology Information (NCBI) RefSeqGene project and provides a single-file record containing a uniquely stable reference DNA sequence along with all relevant transcript and protein sequences essential to the description of gene variants. In principle, LRGs can be created for any organism, not just human. In addition, we recognize the need to respect legacy numbering systems for exons and amino acids and the LRG format takes account of these. We hope that widespread adoption of LRGs - which will be created and maintained by the NCBI and the European Bioinformatics Institute (EBI) - along with consistent use of the Human Genome Variation Society (HGVS)-approved variant nomenclature will reduce errors in the reporting of variants in the literature and improve communication about variants affecting human health. Further information can be found on the LRG web site: http://www.lrg-sequence.org. © Dalgleish et al.; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( |
| abstract_unstemmed |
Abstract As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disease-causing gene variants has become increasingly problematic. In part, this is due to current reference DNA sequence formats that do not fully meet present needs. Here we present the Locus Reference Genomic (LRG) sequence format, which has been designed for the specific purpose of gene variant reporting. The format builds on the successful National Center for Biotechnology Information (NCBI) RefSeqGene project and provides a single-file record containing a uniquely stable reference DNA sequence along with all relevant transcript and protein sequences essential to the description of gene variants. In principle, LRGs can be created for any organism, not just human. In addition, we recognize the need to respect legacy numbering systems for exons and amino acids and the LRG format takes account of these. We hope that widespread adoption of LRGs - which will be created and maintained by the NCBI and the European Bioinformatics Institute (EBI) - along with consistent use of the Human Genome Variation Society (HGVS)-approved variant nomenclature will reduce errors in the reporting of variants in the literature and improve communication about variants affecting human health. Further information can be found on the LRG web site: http://www.lrg-sequence.org. © Dalgleish et al.; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( |
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| title_short |
Locus Reference Genomic sequences: an improved basis for describing human DNA variants |
| url |
https://dx.doi.org/10.1186/gm145 |
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Flicek, Paul Cunningham, Fiona Astashyn, Alex Tully, Raymond E Proctor, Glenn Chen, Yuan McLaren, William M Larsson, Pontus Vaughan, Brendan W Béroud, Christophe Dobson, Glen Lehväslaiho, Heikki Taschner, Peter EM den Dunnen, Johan T Devereau, Andrew Birney, Ewan Brookes, Anthony J Maglott, Donna R |
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Flicek, Paul Cunningham, Fiona Astashyn, Alex Tully, Raymond E Proctor, Glenn Chen, Yuan McLaren, William M Larsson, Pontus Vaughan, Brendan W Béroud, Christophe Dobson, Glen Lehväslaiho, Heikki Taschner, Peter EM den Dunnen, Johan T Devereau, Andrew Birney, Ewan Brookes, Anthony J Maglott, Donna R |
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