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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00008698naa a2200769 4500
001oai:DiVA.org:uu-420897
003SwePub
008201002s2020 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4208972 URI
0247 a https://doi.org/10.1038/s41467-019-14079-02 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Pinese, Marku Garvan Inst Med Res, Sydney, NSW, Australia.;Univ New South Wales, Childrens Canc Inst, Sydney, NSW, Australia.;Univ New South Wales, Fac Med, Sch Womens & Childrens Hlth, Sydney, NSW, Australia.4 aut
2451 0a The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
264 c 2020-01-23
264 1b Springer Nature,c 2020
338 a electronic2 rdacarrier
520 a 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. Healthspan and healthy aging are areas of research with potential socioeconomic impact. Here, the authors present the Medical Genome Reference Bank (MGRB) which consist of over 4,000 individuals aged 70 years and older without a history of the major age-related diseases and report on results from whole-genome sequencing and association analyses.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
7001 a Lacaze, Paulu Monash Univ, Dept Epidemiol & Prevent Med, Melbourne, Vic, Australia.4 aut
7001 a Rath, Emma M.u Garvan Inst Med Res, Sydney, NSW, Australia.4 aut
7001 a Stone, Andrewu Garvan Inst Med Res, Sydney, NSW, Australia.;Univ New South Wales, Childrens Canc Inst, Sydney, NSW, Australia.;Univ New South Wales, Fac Med, Sch Womens & Childrens Hlth, Sydney, NSW, Australia.;Univ New South Wales, Fac Med, St Vincents Clin Sch, Sydney, NSW, Australia.4 aut
7001 a Brion, Marie-Jou Garvan Inst Med Res, Sydney, NSW, Australia.4 aut
7001 a Ameur, Adamu Uppsala universitet,Institutionen för immunologi, genetik och patologi,Science for Life Laboratory, SciLifeLab,Monash Univ, Dept Epidemiol & Prevent Med, Melbourne, Vic, Australia.4 aut0 (Swepub:uu)adame789
7001 a Nagpal, Siniu Georgia Inst Technol, Ctr Integrat Genom, Atlanta, GA 30332 USA.4 aut
7001 a Puttick, Clareu Garvan Inst Med Res, Sydney, NSW, Australia.4 aut
7001 a Husson, Shaneu Garvan Inst Med Res, Sydney, NSW, Australia.4 aut
7001 a Degrave, Dmitryu Garvan Inst Med Res, Sydney, NSW, Australia.4 aut
7001 a Cristina, Tina Navinu Sax Inst, Sydney, NSW, Australia.4 aut
7001 a Kahl, Vivian F. S.u Univ Sydney, Fac Med & Hlth, Childrens Med Res Inst, Westmead, NSW, Australia.4 aut
7001 a Statham, Aaron L.u Garvan Inst Med Res, Sydney, NSW, Australia.4 aut
7001 a Woods, Robyn L.u Monash Univ, Dept Epidemiol & Prevent Med, Melbourne, Vic, Australia.4 aut
7001 a McNeil, John J.u Monash Univ, Dept Epidemiol & Prevent Med, Melbourne, Vic, Australia.4 aut
7001 a Riaz, Moeenu Monash Univ, Dept Epidemiol & Prevent Med, Melbourne, Vic, Australia.4 aut
7001 a Barr, Margou Univ New South Wales, Ctr Primary Hlth Care & Equ, Sydney, NSW, Australia.4 aut
7001 a Nelson, Mark R.u Monash Univ, Dept Epidemiol & Prevent Med, Melbourne, Vic, Australia.;Univ Tasmania, Menzies Inst Med Res, Hobart, Tas, Australia.4 aut
7001 a Reid, Christopher M.u Monash Univ, Dept Epidemiol & Prevent Med, Melbourne, Vic, Australia.;Curtin Univ, Sch Publ Hlth, Perth, WA, Australia.4 aut
7001 a Murray, Anne M.u Berman Ctr Outcomes & Clin Res, Hennepin Healthcare Res Inst, Hennepin Healthcare, Minneapolis, MN USA.;Hennepin Cty Med Ctr, Dept Med, Div Geriatr, Minneapolis, MN USA.;Univ Minnesota, Minneapolis, MN USA.4 aut
7001 a Shah, Raj C.u Rush Univ, Dept Family Med, Med Ctr, Chicago, IL USA.;Rush Univ, Rush Alzheimers Dis Ctr, Med Ctr, Chicago, IL USA.4 aut
7001 a Wolfe, Roryu Monash Univ, Dept Epidemiol & Prevent Med, Melbourne, Vic, Australia.4 aut
7001 a Atkins, Joshua R.u Univ Newcastle, Sch Biomed Sci & Pharm, Callaghan, NSW, Australia.;Hunter Med Res Inst, Ctr Brain & Mental Hlth Res, Newcastle, NSW, Australia.4 aut
7001 a Fitzsimmons, Chantelu Univ Newcastle, Sch Biomed Sci & Pharm, Callaghan, NSW, Australia.;Hunter Med Res Inst, Ctr Brain & Mental Hlth Res, Newcastle, NSW, Australia.4 aut
7001 a Cairns, Heath M.u Univ Newcastle, Sch Biomed Sci & Pharm, Callaghan, NSW, Australia.;Hunter Med Res Inst, Ctr Brain & Mental Hlth Res, Newcastle, NSW, Australia.4 aut
7001 a Green, Melissa J.u Univ New South Wales, Sch Psychiat, Sydney, NSW, Australia.;Neurosci Res Australia, Sydney, NSW, Australia.4 aut
7001 a Carr, Vaughan J.u Univ New South Wales, Sch Psychiat, Sydney, NSW, Australia.;Neurosci Res Australia, Sydney, NSW, Australia.;Monash Univ, Sch Clin Sci, Dept Psychiat, Melbourne, Vic, Australia.4 aut
7001 a Cowley, Mark J.u Garvan Inst Med Res, Sydney, NSW, Australia.;Univ New South Wales, Childrens Canc Inst, Sydney, NSW, Australia.;Univ New South Wales, Fac Med, Sch Womens & Childrens Hlth, Sydney, NSW, Australia.4 aut
7001 a Pickett, Hilda A.u Univ Sydney, Fac Med & Hlth, Childrens Med Res Inst, Westmead, NSW, Australia.4 aut
7001 a James, Paul A.u Peter MacCallum Canc Ctr, Parkville Familial Canc Ctr, Melbourne, Vic, Australia.;Univ Melbourne, Sir Peter MacCallum Dept Oncol, Melbourne, Vic, Australia.4 aut
7001 a Powell, Joseph E.u Univ New South Wales, Sch Med Sci, UNSW Cellular Genom Futures Inst, Sydney, NSW, Australia.;Garvan Inst Med Res, Garvan Weizmann Ctr Cellular Genom, Sydney, NSW, Australia.4 aut
7001 a Kaplan, Warrenu Garvan Inst Med Res, Sydney, NSW, Australia.;Univ New South Wales, Fac Med, St Vincents Clin Sch, Sydney, NSW, Australia.4 aut
7001 a Gibson, Gregu Georgia Inst Technol, Ctr Integrat Genom, Atlanta, GA 30332 USA.4 aut
7001 a Gyllensten, Ulf B.u Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik4 aut0 (Swepub:uu)ulfgyll
7001 a Cairns, Murray J.u Univ Newcastle, Sch Biomed Sci & Pharm, Callaghan, NSW, Australia.;Hunter Med Res Inst, Ctr Brain & Mental Hlth Res, Newcastle, NSW, Australia.4 aut
7001 a McNamara, Martinu Sax Inst, Sydney, NSW, Australia.4 aut
7001 a Dinger, Marcel E.u Garvan Inst Med Res, Sydney, NSW, Australia.;Univ New South Wales, Fac Sci, Sch Biotechnol & Biomol Sci, Sydney, NSW, Australia.4 aut
7001 a Thomas, David M.u Garvan Inst Med Res, Sydney, NSW, Australia.;Univ New South Wales, Fac Med, St Vincents Clin Sch, Sydney, NSW, Australia.4 aut
7102 a Garvan Inst Med Res, Sydney, NSW, Australia.;Univ New South Wales, Childrens Canc Inst, Sydney, NSW, Australia.;Univ New South Wales, Fac Med, Sch Womens & Childrens Hlth, Sydney, NSW, Australia.b Monash Univ, Dept Epidemiol & Prevent Med, Melbourne, Vic, Australia.4 org
7730 t Nature Communicationsd : Springer Natureg 11:1q 11:1x 2041-1723
8564 u https://doi.org/10.1038/s41467-019-14079-0y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1472625/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://www.nature.com/articles/s41467-019-14079-0.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-420897
8564 8u https://doi.org/10.1038/s41467-019-14079-0

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