Disc degeneration-related clinical phenotypes.
The phenotype, or observable trait of interest, is at the core of studies identifying associated genetic variants and their functional pathways, as well as diagnostics. Yet, despite remarkable technological developments in genotyping and progress in genetic research, relatively little attention has...
| Main Authors: | , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Springer Verlag
2014
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| _version_ | 1797097101420658688 |
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| author | Battié, M Lazáry, A Fairbank, J Eisenstein, S Heywood, C Brayda-Bruno, M Varga, P McCall, I |
| author_facet | Battié, M Lazáry, A Fairbank, J Eisenstein, S Heywood, C Brayda-Bruno, M Varga, P McCall, I |
| author_sort | Battié, M |
| collection | OXFORD |
| description | The phenotype, or observable trait of interest, is at the core of studies identifying associated genetic variants and their functional pathways, as well as diagnostics. Yet, despite remarkable technological developments in genotyping and progress in genetic research, relatively little attention has been paid to the equally important issue of phenotype. This is especially true for disc degeneration-related disorders, and the concept of degenerative disc disease, in particular, where there is little consensus or uniformity of definition. Greater attention and rigour are clearly needed in the development of disc degeneration-related clinical phenotypes if we are to see more rapid advancements in knowledge of this area. When selecting phenotypes, a basic decision is whether to focus directly on the complex clinical phenotype (e.g. the clinical syndrome of spinal stenosis), which is ultimately of interest, or an intermediate phenotype (e.g. dural sac cross-sectional area). While both have advantages, it cannot be assumed that associated gene variants will be similarly relevant to both. Among other considerations are factors influencing phenotype identification, comorbidities that are often present, and measurement issues. Genodisc, the European research consortium project on disc-related clinical pathologies has adopted a strategy that will allow for the careful characterisation and examination of both the complex clinical phenotypes of interest and their components. |
| first_indexed | 2024-03-07T04:50:49Z |
| format | Journal article |
| id | oxford-uuid:d4e35408-8026-4500-9eb4-f63c61b28b2a |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T04:50:49Z |
| publishDate | 2014 |
| publisher | Springer Verlag |
| record_format | dspace |
| spelling | oxford-uuid:d4e35408-8026-4500-9eb4-f63c61b28b2a2022-03-27T08:22:09ZDisc degeneration-related clinical phenotypes.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:d4e35408-8026-4500-9eb4-f63c61b28b2aEnglishSymplectic Elements at OxfordSpringer Verlag2014Battié, MLazáry, AFairbank, JEisenstein, SHeywood, CBrayda-Bruno, MVarga, PMcCall, IThe phenotype, or observable trait of interest, is at the core of studies identifying associated genetic variants and their functional pathways, as well as diagnostics. Yet, despite remarkable technological developments in genotyping and progress in genetic research, relatively little attention has been paid to the equally important issue of phenotype. This is especially true for disc degeneration-related disorders, and the concept of degenerative disc disease, in particular, where there is little consensus or uniformity of definition. Greater attention and rigour are clearly needed in the development of disc degeneration-related clinical phenotypes if we are to see more rapid advancements in knowledge of this area. When selecting phenotypes, a basic decision is whether to focus directly on the complex clinical phenotype (e.g. the clinical syndrome of spinal stenosis), which is ultimately of interest, or an intermediate phenotype (e.g. dural sac cross-sectional area). While both have advantages, it cannot be assumed that associated gene variants will be similarly relevant to both. Among other considerations are factors influencing phenotype identification, comorbidities that are often present, and measurement issues. Genodisc, the European research consortium project on disc-related clinical pathologies has adopted a strategy that will allow for the careful characterisation and examination of both the complex clinical phenotypes of interest and their components. |
| spellingShingle | Battié, M Lazáry, A Fairbank, J Eisenstein, S Heywood, C Brayda-Bruno, M Varga, P McCall, I Disc degeneration-related clinical phenotypes. |
| title | Disc degeneration-related clinical phenotypes. |
| title_full | Disc degeneration-related clinical phenotypes. |
| title_fullStr | Disc degeneration-related clinical phenotypes. |
| title_full_unstemmed | Disc degeneration-related clinical phenotypes. |
| title_short | Disc degeneration-related clinical phenotypes. |
| title_sort | disc degeneration related clinical phenotypes |
| work_keys_str_mv | AT battiem discdegenerationrelatedclinicalphenotypes AT lazarya discdegenerationrelatedclinicalphenotypes AT fairbankj discdegenerationrelatedclinicalphenotypes AT eisensteins discdegenerationrelatedclinicalphenotypes AT heywoodc discdegenerationrelatedclinicalphenotypes AT braydabrunom discdegenerationrelatedclinicalphenotypes AT vargap discdegenerationrelatedclinicalphenotypes AT mccalli discdegenerationrelatedclinicalphenotypes |