دورية أكاديمية
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
| العنوان: | The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly |
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| المؤلفون: | Pinese, M, Lacaze, P, Rath, EM, Stone, A, Brion, MJ, Ameur, A, Nagpal, S, Puttick, C, Husson, S, Degrave, D, Cristina, TN, Kahl, VFS, Statham, AL, Woods, RL, McNeil, JJ, Riaz, M, Barr, M, Nelson, MR, Reid, CM, Murray, AM, Shah, RC, Wolfe, R, Atkins, JR, Fitzsimmons, C, Cairns, HM, Green, MJ, Carr, VJ, Cowley, MJ, Pickett, HA, James, PA, Powell, JE, Kaplan, W, Gibson, G, Gyllensten, U, Cairns, MJ, McNamara, M, Dinger, ME, Thomas, DM |
| المصدر: | urn:ISSN:2041-1723 ; Nature Communications, 11, 1, 435 |
| بيانات النشر: | Springer Nature |
| سنة النشر: | 2020 |
| المجموعة: | UNSW Sydney (The University of New South Wales): UNSWorks |
| مصطلحات موضوعية: | Human Genome, Aging, Biotechnology, Genetics, Clinical Research, 2.1 Biological and endogenous factors, 2 Aetiology, Generic health relevance, Cancer, 3 Good Health and Well Being, Aged, 80 and over, Cohort Studies, Databases, Genetic, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Healthy Volunteers, Humans, Male, Middle Aged, Mitochondria, Neoplasms, Physical Functional Performance, Polymorphism, Single Nucleotide |
| الوصف: | Population health research is increasingly focused on the genetic determinants of healthy ageing, but there is no public resource of whole genome sequences and phenotype data from healthy elderly individuals. Here we describe the first release of the Medical Genome Reference Bank (MGRB), comprising whole genome sequence and phenotype of 2570 elderly Australians depleted for cancer, cardiovascular disease, and dementia. We analyse the MGRB for single-nucleotide, indel and structural variation in the nuclear and mitochondrial genomes. MGRB individuals have fewer disease-associated common and rare germline variants, relative to both cancer cases and the gnomAD and UK Biobank cohorts, consistent with risk depletion. Age-related somatic changes are correlated with grip strength in men, suggesting blood-derived whole genomes may also provide a biologic measure of age-related functional deterioration. The MGRB provides a broadly applicable reference cohort for clinical genetics and genomic association studies, and for understanding the genetics of healthy ageing. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | unknown |
| العلاقة: | http://hdl.handle.net/1959.4/unsworks_69037Test; https://unsworks.unsw.edu.au/bitstreams/6ae72190-2810-4d1a-8730-4e0c001ade08/downloadTest; https://doi.org/10.1038/s41467-019-14079-0Test |
| DOI: | 10.1038/s41467-019-14079-0 |
| الإتاحة: | https://doi.org/10.1038/s41467-019-14079-0Test http://hdl.handle.net/1959.4/unsworks_69037Test https://unsworks.unsw.edu.au/bitstreams/6ae72190-2810-4d1a-8730-4e0c001ade08/downloadTest |
| حقوق: | open access ; https://purl.org/coar/access_right/c_abf2Test ; CC BY ; https://creativecommons.org/licenses/by/4.0Test/ ; free_to_read |
| رقم الانضمام: | edsbas.81891356 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s41467-019-14079-0 |
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