@article{VanHoutTachmazidouBackmanetal.2020,
  author    = {Van Hout, Cristopher V. and Tachmazidou, Ioanna and Backman, Joshua D. and Hoffman, Joshua D. and Liu, Daren and Pandey, Ashutosh K. and Gonzaga-Jauregui, Claudia and Khalid, Shareef and Ye, Bin and Banerjee, Nilanjana and Li, Alexander H. and O'Dushlaine, Colm and Marcketta, Anthony and Staples, Jeffrey and Schurmann, Claudia and Hawes, Alicia and Maxwell, Evan and Barnard, Leland and Lopez, Alexander and Penn, John and Habegger, Lukas and Blumenfeld, Andrew L. and Bai, Xiaodong and O'Keeffe, Sean and Yadav, Ashish and Praveen, Kavita and Jones, Marcus and Salerno, William J. and Chung, Wendy K. and Surakka, Ida and Willer, Cristen J. and Hveem, Kristian and Leader, Joseph B. and Carey, David J. and Ledbetter, David H. and Cardon, Lon and Yancopoulos, George D. and Economides, Aris and Coppola, Giovanni and Shuldiner, Alan R. and Balasubramanian, Suganthi and Cantor, Michael and Nelson, Matthew R. and Whittaker, John and Reid, Jeffrey G. and Marchini, Jonathan and Overton, John D. and Scott, Robert A. and Abecasis, Goncalo R. and Yerges-Armstrong, Laura M. and Baras, Aris},
  title     = {Exome sequencing and characterization of 49,960 individuals in the UK Biobank},
  series = {Nature : the international weekly journal of science},
  volume    = {586},
  journal   = {Nature : the international weekly journal of science},
  number    = {7831},
  publisher = {Macmillan Publishers Limited},
  address   = {London},
  organization    = {Regeneron Genetics Ctr},
  issn      = {0028-0836},
  doi       = {10.1038/s41586-020-2853-0},
  pages     = {749 -- 756},
  year      = {2020},
  abstract  = {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.},
  language  = {en}
}
@article{RouxMoorkampJonesetal.2011,
  author    = {Roux, E. and Moorkamp, Max and Jones, Alan G. and Bischoff, Monika and Endrun, Brigitte and Lebedev, Sergei and Meier, Thomas},
  title     = {Joint inversion of long-period magnetotelluric data and surface-wave dispersion curves for anisotropic structure application to data from Central Germany},
  series = {Geophysical research letters},
  volume    = {38},
  journal   = {Geophysical research letters},
  number    = {3},
  publisher = {American Geophysical Union},
  address   = {Washington},
  issn      = {0094-8276},
  doi       = {10.1029/2010GL046358},
  pages     = {5},
  year      = {2011},
  abstract  = {Geophysical datasets sensitive to different physical parameters can be used to improve resolution of Earth's internal structure. Herein, we jointly invert long-period magnetotelluric (MT) data and surface-wave dispersion curves. Our approach is based on a joint inversion using a genetic algorithm for a one-dimensional (1-D) isotropic structure, which we extend to 1-D anisotropic media. We apply our new anisotropic joint inversion to datasets from Central Germany demonstrating the capacity of our joint inversion algorithm to establish a 1-D anisotropic model that fits MT and seismic datasets simultaneously and providing new information regarding the deep structure in Central Germany. The lithosphere/asthenosphere boundary is found at approx. 84 km depth and two main anisotropic layers with coincident most conductive/seismic fast-axis direction are resolved at lower crustal and asthenospheric depths. We also quantify the amount of seismic and electrical anisotropy in the asthenosphere showing an emerging agreement between the two anisotropic coefficients.},
  language  = {en}
}