A brief history of human disease genetics
A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 years, progress in realizing this objective has been transformed by advances in technology, foundational...
| Päätekijät: | , , , , , , , , , , , , , , , , , |
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| Aineistotyyppi: | Journal article |
| Kieli: | English |
| Julkaistu: |
Springer Nature
2020
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| _version_ | 1826280096549306368 |
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| author | Claussnitzer, M Cho, JH Collins, R Cox, NJ Dermitzakis, ET Hurles, ME Kathiresan, S Kenny, EE Lindgren, CM MacArthur, DG North, KN Plon, SE Rehm, HL Risch, N Rotimi, CN Shendure, J Soranzo, N McCarthy, MI |
| author_facet | Claussnitzer, M Cho, JH Collins, R Cox, NJ Dermitzakis, ET Hurles, ME Kathiresan, S Kenny, EE Lindgren, CM MacArthur, DG North, KN Plon, SE Rehm, HL Risch, N Rotimi, CN Shendure, J Soranzo, N McCarthy, MI |
| author_sort | Claussnitzer, M |
| collection | OXFORD |
| description | A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 years, progress in realizing this objective has been transformed by advances in technology, foundational genomic resources and analytical tools, and by access to vast amounts of genotype and phenotype data. Genetic discoveries have substantially improved our understanding of the mechanisms responsible for many rare and common diseases and driven development of novel preventative and therapeutic strategies. Medical innovation will increasingly focus on delivering care tailored to individual patterns of genetic predisposition. |
| first_indexed | 2024-03-07T00:08:35Z |
| format | Journal article |
| id | oxford-uuid:786b91e3-cf20-485d-9bba-a0cf7c20d199 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T00:08:35Z |
| publishDate | 2020 |
| publisher | Springer Nature |
| record_format | dspace |
| spelling | oxford-uuid:786b91e3-cf20-485d-9bba-a0cf7c20d1992022-03-26T20:30:38ZA brief history of human disease geneticsJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:786b91e3-cf20-485d-9bba-a0cf7c20d199EnglishSymplectic ElementsSpringer Nature 2020Claussnitzer, MCho, JHCollins, RCox, NJDermitzakis, ETHurles, MEKathiresan, SKenny, EELindgren, CMMacArthur, DGNorth, KNPlon, SERehm, HLRisch, NRotimi, CNShendure, JSoranzo, NMcCarthy, MIA primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 years, progress in realizing this objective has been transformed by advances in technology, foundational genomic resources and analytical tools, and by access to vast amounts of genotype and phenotype data. Genetic discoveries have substantially improved our understanding of the mechanisms responsible for many rare and common diseases and driven development of novel preventative and therapeutic strategies. Medical innovation will increasingly focus on delivering care tailored to individual patterns of genetic predisposition. |
| spellingShingle | Claussnitzer, M Cho, JH Collins, R Cox, NJ Dermitzakis, ET Hurles, ME Kathiresan, S Kenny, EE Lindgren, CM MacArthur, DG North, KN Plon, SE Rehm, HL Risch, N Rotimi, CN Shendure, J Soranzo, N McCarthy, MI A brief history of human disease genetics |
| title | A brief history of human disease genetics |
| title_full | A brief history of human disease genetics |
| title_fullStr | A brief history of human disease genetics |
| title_full_unstemmed | A brief history of human disease genetics |
| title_short | A brief history of human disease genetics |
| title_sort | brief history of human disease genetics |
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