Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

作者: Cristopher V Van Hout , Ioanna Tachmazidou , Joshua D Backman , Joshua X Hoffman , Bin Ye

DOI: 10.1101/572347

关键词:

摘要: 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. Here we …

参考文章(54)
Lesya V. Zelenchuk, Anne-Marie Hedge, Peter S.N. Rowe, Age dependent regulation of bone-mass and renal function by the MEPE ASARM-motif Bone. ,vol. 79, pp. 131- 142 ,(2015) , 10.1016/J.BONE.2015.05.030
Jeffrey Staples, Dandi Qiao, Michael H. Cho, Edwin K. Silverman, Deborah A. Nickerson, Jennifer E. Below, PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent. American Journal of Human Genetics. ,vol. 95, pp. 553- 564 ,(2014) , 10.1016/J.AJHG.2014.10.005
Matt Bremmer, Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment. International Journal of Nephrology and Renovascular Disease. ,vol. 3, pp. 69- 83 ,(2010) , 10.2147/IJNRD.S6939
N Carbuccia, A Murati, V Trouplin, M Brecqueville, J Adelaide, J Rey, W Vainchenker, OA Bernard, M Chaffanet, N Vey, D Birnbaum, MJ Mozziconacci, Mutations of ASXL1 gene in myeloproliferative neoplasms Leukemia. ,vol. 23, pp. 2183- 2186 ,(2009) , 10.1038/LEU.2009.141
Raghothama Chaerkady, Hanjuan Shao, Sherri-Gae Scott, Akhilesh Pandey, Albert S Jun, Shukti Chakravarti, None, The keratoconus corneal proteome: loss of epithelial integrity and stromal degeneration Journal of Proteomics. ,vol. 87, pp. 122- 131 ,(2013) , 10.1016/J.JPROT.2013.05.023
Jing Li, Bing Hou, Sarka Tumova, Katsuhiko Muraki, Alexander Bruns, Melanie J. Ludlow, Alicia Sedo, Adam J. Hyman, Lynn McKeown, Richard S. Young, Nadira Y. Yuldasheva, Yasser Majeed, Lesley A. Wilson, Baptiste Rode, Marc A. Bailey, Hyejeong R. Kim, Zhaojun Fu, Deborah A. L. Carter, Jan Bilton, Helen Imrie, Paul Ajuh, T. Neil Dear, Richard M. Cubbon, Mark T. Kearney, K. Raj Prasad, Paul C. Evans, Justin F. X. Ainscough, David J. Beech, Piezo1 integration of vascular architecture with physiological force Nature. ,vol. 515, pp. 279- 282 ,(2014) , 10.1038/NATURE13701
Nery Garcia-Porta, Paulo Fernandes, Antonio Queiros, Jose Salgado-Borges, Manuel Parafita-Mato, Jose Manuel González-Méijome, Corneal Biomechanical Properties in Different Ocular Conditions and New Measurement Techniques International Scholarly Research Notices. ,vol. 2014, pp. 724546- 724546 ,(2014) , 10.1155/2014/724546
Mari´a A. del Buey, Jose´ A. Cristo´bal, Francisco J. Ascaso, Laura Lavilla, Elena Lanchares, Biomechanical properties of the cornea in Fuchs' corneal dystrophy. Investigative Ophthalmology & Visual Science. ,vol. 50, pp. 3199- 3202 ,(2009) , 10.1167/IOVS.08-3312
Dieter R. Zimmermann, Beat Trüeb, Kaspar H. Winterhalter, Rudolf Witmer, René W. Fischer, Type VI collagen is a major component of the human cornea FEBS Letters. ,vol. 197, pp. 55- 58 ,(1986) , 10.1016/0014-5793(86)80297-6