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The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world(1). Here we describe the release of exome-sequence data for the first 49,960 study participants, revealing approximately 4 million coding variants (of which around 98.6% have a frequency of less than 1%). The data include 198,269 autosomal predicted loss-of-function (LOF) variants, a more than 14-fold increase compared to the imputed sequence. Nearly all genes (more than 97%) had at least one carrier with a LOF variant, and most genes (more than 69%) had at least ten carriers with a LOF variant. We illustrate the power of characterizing LOF variants in this population through association analyses across 1,730 phenotypes. In addition to replicating established associations, we found novel LOF variants with large effects on disease traits, includingPIEZO1on varicose veins,COL6A1on corneal resistance,MEPEon bone density, andIQGAP2andGMPRon blood cell traits. We further demonstrate the value of exome sequencing by surveying the prevalence of pathogenic variants of clinical importance, and show that 2% of this population has a medically actionable variant. Furthermore, we characterize the penetrance of cancer in carriers of pathogenicBRCA1andBRCA2variants. Exome sequences from the first 49,960 participants highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community. <br /> Exome sequences from the first 49,960 participants in the UK Biobank highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community.
How information about sediment transport processes is transmitted to the sedimentary record remains a complex problem for the interpretation of fluvial stratigraphy. Alluvial fan deposits represent the condensed archive of sediment transport, which is at least partly controlled by tectonics and climate. For three coupled catchment-fan systems in northern Death Valley, California, we measure grain size across 12 well-preserved Holocene and late-Pleistocene surfaces, mapped in detail from field observations and remote sensing. Our results show that fan surfaces correlated to the late Pleistocene are, on average, 30-50% coarser than active or Holocene fan surfaces. We adopt a self-similar form of grain size distribution based on the observed stability of the ratio between mean grain size and standard deviation downstream. Using statistical analysis, we show that fan surface grain size distributions are self-similar. We derive a relative mobility function using our self-similar grain size distributions, which describes the relative probability of a given grain size being transported. We show that the largest mobile grain sizes are between 20 and 35mm, a value that varies over time and is clearly lower in the Holocene than in the Pleistocene; a change we suggest is due to a drier climate in the Holocene. These results support recent findings that alluvial fan sedimentology can record past environmental change and that these landscapes are potentially sensitive to climatic change over a glacial-interglacial cycle. We demonstrate that the self-similarity methodology offers a means to explore changes in relative mobility of grain sizes from preserved fluvial deposits. Plain Language Summary A key challenge in Earth Science is understanding how landscapes respond to climate. It may be possible to observe measurable differences in certain landscapes settings such as alluvial fans in desert regions. Alluvial fans are believed to be effective recorders of climate, representing a cumulative store of material transported downstream by rainfall-sensitive river systems. In northern Death Valley, California, we measure at high resolution grain size on three alluvial fans with surfaces that date from the Holocene and the arid climate of today to the 20-40% wetter late-Pleistocene epoch. We find that older late-Pleistocene surfaces are coarser on average than surfaces deposited during the modern and Holocene dry period, suggesting a changing sediment transport regime potentially in response to precipitation. We also show that measured grain size distributions within and between surfaces can be successfully normalized based on the decay in mean grain size and variance downstream, exhibiting a self-similar pattern. Finally, we employ a grain size relative mobility model using our field data to establish which grain sizes are likely to be in transport or locked in the substrate. This model predicts that during the wetter late-Pleistocene mobile grain sizes are up to 40% larger than during the Holocene.
Seafloor spreading at slow rates can be accommodated on large-offset oceanic detachment faults (ODFs), that exhume lower crustal and mantle rocks in footwall domes termed oceanic core complexes (OCCs). Footwall rocks experience large rotation during exhumation, yet important aspects of the kinematics-particularly the relative roles of solid-block rotation and flexure-are not clearly understood. Using a high-resolution numerical model, we explore the exhumation kinematics in the footwall beneath an emergent ODF/OCC. A key feature of the models is that footwall motion is dominated by solid-block rotation, accommodated by the nonplanar, concave-down fault interface. A consequence is that curvature measured along the ODF is representative of a neutral stress configuration, rather than a "bent" one. Instead, it is in the subsequent process of "apparent unbending" that significant flexural stresses are developed in the model footwall. The brittle strain associated with apparent unbending is produced dominantly in extension, beneath the OCC, consistent with earthquake clustering observed in the Trans-Atlantic Geotraverse at the Mid-Atlantic Ridge.