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Material Type: Artigo
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Inference of human population history from individual whole―genome sequencesHENG LI ; DURBIN, RichardNature (London), 2011-07, Vol.475 (7357), p.493-496 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Reference-based phasing using the Haplotype Reference Consortium panelLoh, Po-Ru ; Danecek, Petr ; Palamara, Pier Francesco ; Fuchsberger, Christian ; A Reshef, Yakir ; K Finucane, Hilary ; Schoenherr, Sebastian ; Forer, Lukas ; McCarthy, Shane ; Abecasis, Goncalo R ; Durbin, Richard ; L Price, AlkesNature genetics, 2016-11, Vol.48 (11), p.1443-1448 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Quantitative genetics of CTCF binding reveal local sequence effects and different modes of X-chromosome associationDing, Zhihao ; Ni, Yunyun ; Timmer, Sander W ; Lee, Bum-Kyu ; Battenhouse, Anna ; Louzada, Sandra ; Yang, Fengtang ; Dunham, Ian ; Crawford, Gregory E ; Lieb, Jason D ; Durbin, Richard ; Iyer, Vishwanath R ; Birney, Ewan Gibson, GregPLoS genetics, 2014-11, Vol.10 (11), p.e1004798-e1004798 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expressionCuomo, Anna S E ; Seaton, Daniel D ; McCarthy, Davis J ; Martinez, Iker ; Bonder, Marc Jan ; Garcia-Bernardo, Jose ; Amatya, Shradha ; Madrigal, Pedro ; Isaacson, Abigail ; Buettner, Florian ; Knights, Andrew ; Natarajan, Kedar Nath ; Vallier, Ludovic ; Marioni, John C ; Chhatriwala, Mariya ; Stegle, OliverNature communications, 2020-02, Vol.11 (1), p.810-810, Article 810 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A map of human genome variation from population-scale sequencingAbecasis, Gonçalo R ; Altshuler, David ; Auton, Adam ; Brooks, Lisa D ; Durbin, Richard M ; Gibbs, Richard A ; Hurles, Matt E ; McVean, Gil ANature (London), 2010-10, Vol.467 (7319), p.1061-1073 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Health and population effects of rare gene knockouts in adult humans with related parentsNarasimhan, Vagheesh M. ; Hunt, Karen A. ; Mason, Dan ; Baker, Christopher L. ; Karczewski, Konrad J. ; Barnes, Michael R. ; Barnett, Anthony H. ; Bates, Chris ; Bellary, Srikanth ; Bockett, Nicholas A. ; Giorda, Kristina ; Griffiths, Christopher J. ; Hemingway, Harry ; Jia, Zhilong ; Kelly, M. Ann ; Khawaja, Hajrah A. ; Lek, Monkol ; McCarthy, Shane ; McEachan, Rosie ; O'Donnell-Luria, Anne ; Paigen, Kenneth ; Parisinos, Constantinos A. ; Sheridan, Eamonn ; Southgate, Laura ; Tee, Louise ; Thomas, Mark ; Xue, Yali ; Schnall-Levin, Michael ; Petkov, Petko M. ; Tyler-Smith, Chris ; Maher, Eamonn R. ; Trembath, Richard C. ; MacArthur, Daniel G. ; Wright, John ; Durbin, Richard ; van Heel, David A.Science (American Association for the Advancement of Science), 2016-04, Vol.352 (6284), p.474-477 [Periódico revisado por pares]United States: American Association for the Advancement of ScienceTexto completo disponível |
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Material Type: Artigo
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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3Olcese, Chiara ; Patel, Mitali P ; Shoemark, Amelia ; Kiviluoto, Santeri ; Legendre, Marie ; Williams, Hywel J ; Vaughan, Cara K ; Hayward, Jane ; Goldenberg, Alice ; Emes, Richard D ; Munye, Mustafa M ; Dyer, Laura ; Cahill, Thomas ; Bevillard, Jeremy ; Gehrig, Corinne ; Guipponi, Michel ; Chantot, Sandra ; Duquesnoy, Philippe ; Thomas, Lucie ; Jeanson, Ludovic ; Copin, Bruno ; Tamalet, Aline ; Thauvin-Robinet, Christel ; Papon, Jean-François ; Garin, Antoine ; Pin, Isabelle ; Vera, Gabriella ; Aurora, Paul ; Fassad, Mahmoud R ; Jenkins, Lucy ; Boustred, Christopher ; Cullup, Thomas ; Dixon, Mellisa ; Onoufriadis, Alexandros ; Bush, Andrew ; Chung, Eddie M K ; Antonarakis, Stylianos E ; Loebinger, Michael R ; Wilson, Robert ; Armengot, Miguel ; Escudier, Estelle ; Hogg, Claire ; Amselem, Serge ; Sun, Zhaoxia ; Bartoloni, Lucia ; Blouin, Jean-Louis ; Mitchison, Hannah MNature communications, 2017-02, Vol.8 (1), p.14279-15, Article 14279 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twinsBuil, Alfonso ; Brown, Andrew Anand ; Lappalainen, Tuuli ; Viñuela, Ana ; Davies, Matthew N ; Zheng, Hou-Feng ; Richards, J Brent ; Glass, Daniel ; Small, Kerrin S ; Durbin, Richard ; Spector, Timothy D ; Dermitzakis, Emmanouil TNature genetics, 2015-01, Vol.47 (1), p.88-91 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing populationBell, Jordana T ; Tsai, Pei-Chien ; Yang, Tsun-Po ; Pidsley, Ruth ; Nisbet, James ; Glass, Daniel ; Mangino, Massimo ; Zhai, Guangju ; Zhang, Feng ; Valdes, Ana ; Shin, So-Youn ; Dempster, Emma L ; Murray, Robin M ; Grundberg, Elin ; Hedman, Asa K ; Nica, Alexandra ; Small, Kerrin S ; Dermitzakis, Emmanouil T ; McCarthy, Mark I ; Mill, Jonathan ; Spector, Tim D ; Deloukas, Panos Li, JunPLoS genetics, 2012-04, Vol.8 (4), p.e1002629-e1002629 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory ElementsGrundberg, Elin ; Meduri, Eshwar ; Sandling, Johanna K. ; Hedman, Åsa K. ; Keildson, Sarah ; Buil, Alfonso ; Busche, Stephan ; Yuan, Wei ; Nisbet, James ; Sekowska, Magdalena ; Wilk, Alicja ; Barrett, Amy ; Small, Kerrin S. ; Ge, Bing ; Caron, Maxime ; Shin, So-Youn ; Ahmadi, Kourosh R. ; Ainali, Chrysanthi ; Barrett, Amy ; Bataille, Veronique ; Bell, Jordana T. ; Buil, Alfonso ; Deloukas, Panos ; Dermitzakis, Emmanouil T. ; Dimas, Antigone S. ; Durbin, Richard ; Glass, Daniel ; Grundberg, Elin ; Hassanali, Neelam ; Hedman, Åsa K. ; Ingle, Catherine ; Knowles, David ; Krestyaninova, Maria ; Lindgren, Cecilia M. ; Lowe, Christopher E. ; McCarthy, Mark I. ; Meduri, Eshwar ; di Meglio, Paola ; Min, Josine L. ; Montgomery, Stephen B. ; Nestle, Frank O. ; Nica, Alexandra C. ; Nisbet, James ; O’Rahilly, Stephen ; Parts, Leopold ; Potter, Simon ; Sandling, Johanna ; Sekowska, Magdalena ; Shin, So-Youn ; Small, Kerrin S. ; Soranzo, Nicole ; Spector, Tim D. ; Surdulescu, Gabriela ; Travers, Mary E. ; Tsaprouni, Loukia ; Tsoka, Sophia ; Wilk, Alicja ; Yang, Tsun-Po ; Zondervan, Krina T. ; Lathrop, Mark ; Dermitzakis, Emmanouil T. ; McCarthy, Mark I. ; Spector, Timothy D. ; Bell, Jordana T. ; Deloukas, PanosAmerican journal of human genetics, 2013-11, Vol.93 (5), p.876-890 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |