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- Pinese, Mark, et al.
(författare)
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The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
- 2020
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 2. |
- Kervyn, Matthieu, et al.
(författare)
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Fundamental changes in the activity of the natrocarbonatite volcano Oldoinyo Lengai, Tanzania
- 2010
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Ingår i: Bulletin of Volcanology. - : Springer Science and Business Media LLC. - 0258-8900 .- 1432-0819. ; 72:8, s. 913-931
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Tidskriftsartikel (refereegranskat)abstract
- On September 4,2007, after 25 years of effusive natrocarbonatite eruptions, the eruptive activity of Oldoinyo Lengai (OL), N Tanzania, changed abruptly to episodic explosive eruptions. This transition was preceded by a voluminous lava eruption in March 2006, a year of quiescence, resumption of natrocarbonatite eruptions in June 2007, and a volcano-tectonic earthquake swarm in July 2007. Despite the lack of ground-based monitoring, the evolution in OL eruption dynamics is documented based on the available field observations, ASTER and MODIS satellite images, and almost-daily photos provided by local pilots. Satellite data enabled identification of a phase of voluminous lava effusion in the 2 weeks prior to the onset of explosive eruptions. After the onset, the activity varied from 100 m high ash jets to 2-15 km high violent, steady or unsteady, eruption columns dispersing ash to 100 km distance. The explosive eruptions built up a similar to 400 m wide, similar to 75 m high intra-crater pyroclastic cone. Time series data for eruption column height show distinct peaks at the end of September 2007 and February 2008, the latter being associated with the first pyroclastic flows to be documented at OL. Chemical analyses of the erupted products, presented in a companion paper (Keller et al. 2010), show that the 2007-2008 explosive eruptions are associated with an undersaturated carbonated silicate melt. This new phase of explosive eruptions provides constraints on the factors causing the transition from natrocarbonatite effusive eruptions to explosive eruptions of carbonated nephelinite magma, observed repetitively in the last 100 years at OL.
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