Big data phenotyping in rare diseases: some ethical issues
Phenotyping based on the analysis of photographic images is refining the categorisation of rare genetic disorders1. Through the development of facial recognition technology incorporating machine learning algorithms (MLAs) this big data approach to phenotyping – computational phenotyping - provides s...
| Հիմնական հեղինակներ: | , , |
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| Ձևաչափ: | Journal article |
| Հրապարակվել է: |
Springer Nature
2018
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| _version_ | 1826278586679558144 |
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| author | Hallowell, N Parker, M Nellaker, C |
| author_facet | Hallowell, N Parker, M Nellaker, C |
| author_sort | Hallowell, N |
| collection | OXFORD |
| description | Phenotyping based on the analysis of photographic images is refining the categorisation of rare genetic disorders1. Through the development of facial recognition technology incorporating machine learning algorithms (MLAs) this big data approach to phenotyping – computational phenotyping - provides statistical support for determining causative variations and enables patient “matchmaking” for ultra-rare or currently unknown disorders |
| first_indexed | 2024-03-06T23:46:08Z |
| format | Journal article |
| id | oxford-uuid:70f5cd9d-a71e-4fc8-815f-569d8cd6dc5d |
| institution | University of Oxford |
| last_indexed | 2024-03-06T23:46:08Z |
| publishDate | 2018 |
| publisher | Springer Nature |
| record_format | dspace |
| spelling | oxford-uuid:70f5cd9d-a71e-4fc8-815f-569d8cd6dc5d2022-03-26T19:40:41ZBig data phenotyping in rare diseases: some ethical issuesJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:70f5cd9d-a71e-4fc8-815f-569d8cd6dc5dSymplectic Elements at OxfordSpringer Nature2018Hallowell, NParker, MNellaker, CPhenotyping based on the analysis of photographic images is refining the categorisation of rare genetic disorders1. Through the development of facial recognition technology incorporating machine learning algorithms (MLAs) this big data approach to phenotyping – computational phenotyping - provides statistical support for determining causative variations and enables patient “matchmaking” for ultra-rare or currently unknown disorders |
| spellingShingle | Hallowell, N Parker, M Nellaker, C Big data phenotyping in rare diseases: some ethical issues |
| title | Big data phenotyping in rare diseases: some ethical issues |
| title_full | Big data phenotyping in rare diseases: some ethical issues |
| title_fullStr | Big data phenotyping in rare diseases: some ethical issues |
| title_full_unstemmed | Big data phenotyping in rare diseases: some ethical issues |
| title_short | Big data phenotyping in rare diseases: some ethical issues |
| title_sort | big data phenotyping in rare diseases some ethical issues |
| work_keys_str_mv | AT hallowelln bigdataphenotypinginrarediseasessomeethicalissues AT parkerm bigdataphenotypinginrarediseasessomeethicalissues AT nellakerc bigdataphenotypinginrarediseasessomeethicalissues |