Call for participation in the neurogenetics consortium within the Human Variome Project
Abstract The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the fi...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Haworth, Andrea [verfasserIn] Bertram, Lars [verfasserIn] Carrera, Paola [verfasserIn] Elson, Joanna L. [verfasserIn] Braastad, Corey D. [verfasserIn] Cox, Diane W. [verfasserIn] Cruts, Marc [verfasserIn] den Dunnen, Johann T. [verfasserIn] Farrer, Matthew J. [verfasserIn] Fink, John K. [verfasserIn] Hamed, Sherifa A. [verfasserIn] Houlden, Henry [verfasserIn] Johnson, Dennis R. [verfasserIn] Nuytemans, Karen [verfasserIn] Palau, Francesc [verfasserIn] Rayan, Dipa L. Raja [verfasserIn] Robinson, Peter N. [verfasserIn] Salas, Antonio [verfasserIn] Schüle, Birgitt [verfasserIn] Sweeney, Mary G. [verfasserIn] Woods, Michael O. [verfasserIn] Amigo, Jorge [verfasserIn] Cotton, Richard G. H. [verfasserIn] Sobrido, Maria-Jesus [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2011 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Neurogenetics - Springer-Verlag, 2001, 12(2011), 3 vom: 01. Juni, Seite 169-173 |
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| Übergeordnetes Werk: |
volume:12 ; year:2011 ; number:3 ; day:01 ; month:06 ; pages:169-173 |
| Links: |
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| DOI / URN: |
10.1007/s10048-011-0287-4 |
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| 520 | |a Abstract The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the field of neurology as neurological function is impaired in many human disorders. Furthermore, the field of neurogenetics has been proven to show remarkably complex genotype-to-phenotype relationships. To facilitate the collection of DNA sequence variation pertaining to neurogenetic disorders, we have initiated the “Neurogenetics Consortium” under the umbrella of the Human Variome Project. The Consortium’s founding group consisted of basic researchers, clinicians, informaticians and database creators. This report outlines the strategic aims established at the preliminary meetings of the Neurogenetics Consortium and calls for the involvement of the wider neurogenetic community in enabling the development of this important resource. | ||
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10.1007/s10048-011-0287-4 doi (DE-627)SPR008232431 (SPR)s10048-011-0287-4-e DE-627 ger DE-627 rakwb eng Haworth, Andrea verfasserin aut Call for participation in the neurogenetics consortium within the Human Variome Project 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the field of neurology as neurological function is impaired in many human disorders. Furthermore, the field of neurogenetics has been proven to show remarkably complex genotype-to-phenotype relationships. To facilitate the collection of DNA sequence variation pertaining to neurogenetic disorders, we have initiated the “Neurogenetics Consortium” under the umbrella of the Human Variome Project. The Consortium’s founding group consisted of basic researchers, clinicians, informaticians and database creators. This report outlines the strategic aims established at the preliminary meetings of the Neurogenetics Consortium and calls for the involvement of the wider neurogenetic community in enabling the development of this important resource. Human Variome project (dpeaa)DE-He213 Neurogenetics consortium (dpeaa)DE-He213 Database (dpeaa)DE-He213 Genetic variation (dpeaa)DE-He213 Standardisation (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Bertram, Lars verfasserin aut Carrera, Paola verfasserin aut Elson, Joanna L. verfasserin aut Braastad, Corey D. verfasserin aut Cox, Diane W. verfasserin aut Cruts, Marc verfasserin aut den Dunnen, Johann T. verfasserin aut Farrer, Matthew J. verfasserin aut Fink, John K. verfasserin aut Hamed, Sherifa A. verfasserin aut Houlden, Henry verfasserin aut Johnson, Dennis R. verfasserin aut Nuytemans, Karen verfasserin aut Palau, Francesc verfasserin aut Rayan, Dipa L. Raja verfasserin aut Robinson, Peter N. verfasserin aut Salas, Antonio verfasserin aut Schüle, Birgitt verfasserin aut Sweeney, Mary G. verfasserin aut Woods, Michael O. verfasserin aut Amigo, Jorge verfasserin aut Cotton, Richard G. H. verfasserin aut Sobrido, Maria-Jesus verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 12(2011), 3 vom: 01. Juni, Seite 169-173 (DE-627)SPR00822823X nnns volume:12 year:2011 number:3 day:01 month:06 pages:169-173 https://dx.doi.org/10.1007/s10048-011-0287-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 12 2011 3 01 06 169-173 |
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10.1007/s10048-011-0287-4 doi (DE-627)SPR008232431 (SPR)s10048-011-0287-4-e DE-627 ger DE-627 rakwb eng Haworth, Andrea verfasserin aut Call for participation in the neurogenetics consortium within the Human Variome Project 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the field of neurology as neurological function is impaired in many human disorders. Furthermore, the field of neurogenetics has been proven to show remarkably complex genotype-to-phenotype relationships. To facilitate the collection of DNA sequence variation pertaining to neurogenetic disorders, we have initiated the “Neurogenetics Consortium” under the umbrella of the Human Variome Project. The Consortium’s founding group consisted of basic researchers, clinicians, informaticians and database creators. This report outlines the strategic aims established at the preliminary meetings of the Neurogenetics Consortium and calls for the involvement of the wider neurogenetic community in enabling the development of this important resource. Human Variome project (dpeaa)DE-He213 Neurogenetics consortium (dpeaa)DE-He213 Database (dpeaa)DE-He213 Genetic variation (dpeaa)DE-He213 Standardisation (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Bertram, Lars verfasserin aut Carrera, Paola verfasserin aut Elson, Joanna L. verfasserin aut Braastad, Corey D. verfasserin aut Cox, Diane W. verfasserin aut Cruts, Marc verfasserin aut den Dunnen, Johann T. verfasserin aut Farrer, Matthew J. verfasserin aut Fink, John K. verfasserin aut Hamed, Sherifa A. verfasserin aut Houlden, Henry verfasserin aut Johnson, Dennis R. verfasserin aut Nuytemans, Karen verfasserin aut Palau, Francesc verfasserin aut Rayan, Dipa L. Raja verfasserin aut Robinson, Peter N. verfasserin aut Salas, Antonio verfasserin aut Schüle, Birgitt verfasserin aut Sweeney, Mary G. verfasserin aut Woods, Michael O. verfasserin aut Amigo, Jorge verfasserin aut Cotton, Richard G. H. verfasserin aut Sobrido, Maria-Jesus verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 12(2011), 3 vom: 01. Juni, Seite 169-173 (DE-627)SPR00822823X nnns volume:12 year:2011 number:3 day:01 month:06 pages:169-173 https://dx.doi.org/10.1007/s10048-011-0287-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 12 2011 3 01 06 169-173 |
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10.1007/s10048-011-0287-4 doi (DE-627)SPR008232431 (SPR)s10048-011-0287-4-e DE-627 ger DE-627 rakwb eng Haworth, Andrea verfasserin aut Call for participation in the neurogenetics consortium within the Human Variome Project 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the field of neurology as neurological function is impaired in many human disorders. Furthermore, the field of neurogenetics has been proven to show remarkably complex genotype-to-phenotype relationships. To facilitate the collection of DNA sequence variation pertaining to neurogenetic disorders, we have initiated the “Neurogenetics Consortium” under the umbrella of the Human Variome Project. The Consortium’s founding group consisted of basic researchers, clinicians, informaticians and database creators. This report outlines the strategic aims established at the preliminary meetings of the Neurogenetics Consortium and calls for the involvement of the wider neurogenetic community in enabling the development of this important resource. Human Variome project (dpeaa)DE-He213 Neurogenetics consortium (dpeaa)DE-He213 Database (dpeaa)DE-He213 Genetic variation (dpeaa)DE-He213 Standardisation (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Bertram, Lars verfasserin aut Carrera, Paola verfasserin aut Elson, Joanna L. verfasserin aut Braastad, Corey D. verfasserin aut Cox, Diane W. verfasserin aut Cruts, Marc verfasserin aut den Dunnen, Johann T. verfasserin aut Farrer, Matthew J. verfasserin aut Fink, John K. verfasserin aut Hamed, Sherifa A. verfasserin aut Houlden, Henry verfasserin aut Johnson, Dennis R. verfasserin aut Nuytemans, Karen verfasserin aut Palau, Francesc verfasserin aut Rayan, Dipa L. Raja verfasserin aut Robinson, Peter N. verfasserin aut Salas, Antonio verfasserin aut Schüle, Birgitt verfasserin aut Sweeney, Mary G. verfasserin aut Woods, Michael O. verfasserin aut Amigo, Jorge verfasserin aut Cotton, Richard G. H. verfasserin aut Sobrido, Maria-Jesus verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 12(2011), 3 vom: 01. Juni, Seite 169-173 (DE-627)SPR00822823X nnns volume:12 year:2011 number:3 day:01 month:06 pages:169-173 https://dx.doi.org/10.1007/s10048-011-0287-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 12 2011 3 01 06 169-173 |
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10.1007/s10048-011-0287-4 doi (DE-627)SPR008232431 (SPR)s10048-011-0287-4-e DE-627 ger DE-627 rakwb eng Haworth, Andrea verfasserin aut Call for participation in the neurogenetics consortium within the Human Variome Project 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the field of neurology as neurological function is impaired in many human disorders. Furthermore, the field of neurogenetics has been proven to show remarkably complex genotype-to-phenotype relationships. To facilitate the collection of DNA sequence variation pertaining to neurogenetic disorders, we have initiated the “Neurogenetics Consortium” under the umbrella of the Human Variome Project. The Consortium’s founding group consisted of basic researchers, clinicians, informaticians and database creators. This report outlines the strategic aims established at the preliminary meetings of the Neurogenetics Consortium and calls for the involvement of the wider neurogenetic community in enabling the development of this important resource. Human Variome project (dpeaa)DE-He213 Neurogenetics consortium (dpeaa)DE-He213 Database (dpeaa)DE-He213 Genetic variation (dpeaa)DE-He213 Standardisation (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Bertram, Lars verfasserin aut Carrera, Paola verfasserin aut Elson, Joanna L. verfasserin aut Braastad, Corey D. verfasserin aut Cox, Diane W. verfasserin aut Cruts, Marc verfasserin aut den Dunnen, Johann T. verfasserin aut Farrer, Matthew J. verfasserin aut Fink, John K. verfasserin aut Hamed, Sherifa A. verfasserin aut Houlden, Henry verfasserin aut Johnson, Dennis R. verfasserin aut Nuytemans, Karen verfasserin aut Palau, Francesc verfasserin aut Rayan, Dipa L. Raja verfasserin aut Robinson, Peter N. verfasserin aut Salas, Antonio verfasserin aut Schüle, Birgitt verfasserin aut Sweeney, Mary G. verfasserin aut Woods, Michael O. verfasserin aut Amigo, Jorge verfasserin aut Cotton, Richard G. H. verfasserin aut Sobrido, Maria-Jesus verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 12(2011), 3 vom: 01. Juni, Seite 169-173 (DE-627)SPR00822823X nnns volume:12 year:2011 number:3 day:01 month:06 pages:169-173 https://dx.doi.org/10.1007/s10048-011-0287-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 12 2011 3 01 06 169-173 |
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10.1007/s10048-011-0287-4 doi (DE-627)SPR008232431 (SPR)s10048-011-0287-4-e DE-627 ger DE-627 rakwb eng Haworth, Andrea verfasserin aut Call for participation in the neurogenetics consortium within the Human Variome Project 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the field of neurology as neurological function is impaired in many human disorders. Furthermore, the field of neurogenetics has been proven to show remarkably complex genotype-to-phenotype relationships. To facilitate the collection of DNA sequence variation pertaining to neurogenetic disorders, we have initiated the “Neurogenetics Consortium” under the umbrella of the Human Variome Project. The Consortium’s founding group consisted of basic researchers, clinicians, informaticians and database creators. This report outlines the strategic aims established at the preliminary meetings of the Neurogenetics Consortium and calls for the involvement of the wider neurogenetic community in enabling the development of this important resource. Human Variome project (dpeaa)DE-He213 Neurogenetics consortium (dpeaa)DE-He213 Database (dpeaa)DE-He213 Genetic variation (dpeaa)DE-He213 Standardisation (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Bertram, Lars verfasserin aut Carrera, Paola verfasserin aut Elson, Joanna L. verfasserin aut Braastad, Corey D. verfasserin aut Cox, Diane W. verfasserin aut Cruts, Marc verfasserin aut den Dunnen, Johann T. verfasserin aut Farrer, Matthew J. verfasserin aut Fink, John K. verfasserin aut Hamed, Sherifa A. verfasserin aut Houlden, Henry verfasserin aut Johnson, Dennis R. verfasserin aut Nuytemans, Karen verfasserin aut Palau, Francesc verfasserin aut Rayan, Dipa L. Raja verfasserin aut Robinson, Peter N. verfasserin aut Salas, Antonio verfasserin aut Schüle, Birgitt verfasserin aut Sweeney, Mary G. verfasserin aut Woods, Michael O. verfasserin aut Amigo, Jorge verfasserin aut Cotton, Richard G. H. verfasserin aut Sobrido, Maria-Jesus verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 12(2011), 3 vom: 01. Juni, Seite 169-173 (DE-627)SPR00822823X nnns volume:12 year:2011 number:3 day:01 month:06 pages:169-173 https://dx.doi.org/10.1007/s10048-011-0287-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 12 2011 3 01 06 169-173 |
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Haworth, Andrea Bertram, Lars Carrera, Paola Elson, Joanna L. Braastad, Corey D. Cox, Diane W. Cruts, Marc den Dunnen, Johann T. Farrer, Matthew J. Fink, John K. Hamed, Sherifa A. Houlden, Henry Johnson, Dennis R. Nuytemans, Karen Palau, Francesc Rayan, Dipa L. Raja Robinson, Peter N. Salas, Antonio Schüle, Birgitt Sweeney, Mary G. Woods, Michael O. Amigo, Jorge Cotton, Richard G. H. Sobrido, Maria-Jesus |
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Abstract The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the field of neurology as neurological function is impaired in many human disorders. Furthermore, the field of neurogenetics has been proven to show remarkably complex genotype-to-phenotype relationships. To facilitate the collection of DNA sequence variation pertaining to neurogenetic disorders, we have initiated the “Neurogenetics Consortium” under the umbrella of the Human Variome Project. The Consortium’s founding group consisted of basic researchers, clinicians, informaticians and database creators. This report outlines the strategic aims established at the preliminary meetings of the Neurogenetics Consortium and calls for the involvement of the wider neurogenetic community in enabling the development of this important resource. |
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Abstract The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the field of neurology as neurological function is impaired in many human disorders. Furthermore, the field of neurogenetics has been proven to show remarkably complex genotype-to-phenotype relationships. To facilitate the collection of DNA sequence variation pertaining to neurogenetic disorders, we have initiated the “Neurogenetics Consortium” under the umbrella of the Human Variome Project. The Consortium’s founding group consisted of basic researchers, clinicians, informaticians and database creators. This report outlines the strategic aims established at the preliminary meetings of the Neurogenetics Consortium and calls for the involvement of the wider neurogenetic community in enabling the development of this important resource. |
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Abstract The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the field of neurology as neurological function is impaired in many human disorders. Furthermore, the field of neurogenetics has been proven to show remarkably complex genotype-to-phenotype relationships. To facilitate the collection of DNA sequence variation pertaining to neurogenetic disorders, we have initiated the “Neurogenetics Consortium” under the umbrella of the Human Variome Project. The Consortium’s founding group consisted of basic researchers, clinicians, informaticians and database creators. This report outlines the strategic aims established at the preliminary meetings of the Neurogenetics Consortium and calls for the involvement of the wider neurogenetic community in enabling the development of this important resource. |
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