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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
The 100,000 Genomes Project is a U.K. government project that is sequencing the genomes of patients with cancer or rare or infectious diseases. This pilot study involving 4660 participants with rare diseases provided actionable diagnoses and identified three newly implicated disease genes and offers a road map for the larger implementation of genome sequencing in the setting of a national health service.
Journal Article
On impact and volcanism across the Cretaceous-Paleogene boundary
The cause of the end-Cretaceous mass extinction is vigorously debated, owing to the occurrence of a very large bolide impact and flood basalt volcanism near the boundary. Disentangling their relative importance is complicated by uncertainty regarding kill mechanisms and the relative timing of volcanogenic outgassing, impact, and extinction. We used carbon cycle modeling and paleotemperature records to constrain the timing of volcanogenic outgassing. We found support for major outgassing beginning and ending distinctly before the impact, with only the impact coinciding with mass extinction and biologically amplified carbon cycle change. Our models show that these extinction-related carbon cycle changes would have allowed the ocean to absorb massive amounts of carbon dioxide, thus limiting the global warming otherwise expected from postextinction volcanism.
Journal Article
The Geological Record of Ocean Acidification
Ocean acidification may have severe consequences for marine ecosystems; however, assessing its future impact is difficult because laboratory experiments and field observations are limited by their reduced ecologie complexity and sample period, respectively. In contrast, the geological record contains long-term evidence for a variety of global environmental perturbations, including ocean acidification plus their associated biotic responses. We review events exhibiting evidence for elevated atmospheric CO₂, global warming, and ocean acidification over the past ~300 million years of Earth's history, some with contemporaneous extinction or evolutionary turnover among marine calcifiers. Although similarities exist, no past event perfectly parallels future projections in terms of disrupting the balance of ocean carbonate chemistry—a consequence of the unprecedented rapidity of CO₂ release currently taking place.
Journal Article
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
A fundamental problem in rare-disease diagnostics is the lack of consensus as to which genes have sufficient evidence to attribute causation. To address this issue, we have created PanelApp (
https://panelapp.genomicsengland.co.uk
), a publicly available knowledge base of curated virtual gene panels.
Journal Article
Very large release of mostly volcanic carbon during the Palaeocene–Eocene Thermal Maximum
Boron and carbon isotope data, used in an Earth system model, show that the Palaeocene–Eocene Thermal Maximum was associated with a much greater release of carbon than thought, most probably triggered by volcanism in the North Atlantic.
Volcanic carbon warmed the ancient climate
The Palaeocene–Eocene Thermal Maximum was a surface warming event associated with ecological disruption that occurred about 56 million years ago. A large amount of carbon is thought to have been released during this event, but the total amount and the sources of carbon remain uncertain. This paper combines boron and carbon isotope data in an Earth system model and finds that the source of carbon was much larger than previously thought and that most of the carbon was probably released by volcanism associated with the North Atlantic Igneous Province. The study also suggests that the amplifying organic carbon–climate feedbacks did not have a prominent role in driving the event, but that enhanced burial of organic matter was important for sequestering the released carbon and accelerating the recovery of the climate system.
The Palaeocene–Eocene Thermal Maximum
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(PETM) was a global warming event that occurred about 56 million years ago, and is commonly thought to have been driven primarily by the destabilization of carbon from surface sedimentary reservoirs such as methane hydrates
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. However, it remains controversial whether such reservoirs were indeed the source of the carbon that drove the warming
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,
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,
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,
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. Resolving this issue is key to understanding the proximal cause of the warming, and to quantifying the roles of triggers versus feedbacks. Here we present boron isotope data—a proxy for seawater pH—that show that the ocean surface pH was persistently low during the PETM. We combine our pH data with a paired carbon isotope record in an Earth system model in order to reconstruct the unfolding carbon-cycle dynamics during the event
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,
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. We find strong evidence for a much larger (more than 10,000 petagrams)—and, on average, isotopically heavier—carbon source than considered previously
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,
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. This leads us to identify volcanism associated with the North Atlantic Igneous Province
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, rather than carbon from a surface reservoir, as the main driver of the PETM. This finding implies that climate-driven amplification of organic carbon feedbacks probably played only a minor part in driving the event. However, we find that enhanced burial of organic matter seems to have been important in eventually sequestering the released carbon and accelerating the recovery of the Earth system
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.
Journal Article
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
In partnership with NHS England, Genomics England’s ambitious plans to embed genomic medicine into routine patient care are well underway. Clare Turnbull and colleagues discuss its progress
Journal Article