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Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren, William Rae, Daniel Greene, Emily Staples, Zinan Zhang, James H. R. Farmery, Ilenia Simeoni, Elizabeth Rivers, Jesmeen Maimaris, Christopher J. Penkett, Jonathan Stephens, Sri V. V. Deevi, Alba Sanchis‐Juan, Nicholas Gleadall, Moira Thomas, Ravishankar Sargur, Pavels Gordins, Helen E. Baxendale, Matthew A. Brown, Paul Tuijnenburg, Austen Worth, Steven Hanson, Rachel Linger, Matthew S. Buckland, Paula Rayner-Matthews, Kimberly Gilmour, Crina Samarghitean, Suranjith L. Seneviratne, David M. Sansom, Andy G. Lynch, Karyn Mégy, Eva Ellinghaus, David Ellinghaus, Silje F. Jørgensen, Tom H. Karlsen, Kathleen Stirrups, Antony J. Cutler, Dinakantha Kumararatne, Anita Chandra, David Edgar, Archana Herwadkar, Nichola Cooper, Sofia Grigoriadou, Aarnoud Huissoon, Sarah Goddard, Stephen Jolles, Catharina Schuetz, Felix Boschann, Stephen Abbs, Zoe Adhya, Julian Adlard, Maryam Afzal, Irshad Ahmed, Munaza Ahmed, Saeed Ahmed, Timothy J. Aitman, Hana Alachkar, Jayanthi Alamelu, Raza Alikhan, Carl E. Allen, Louise Allen, David Allsup, Arif Alvi, Gautam Ambegaonkar, Ariharan Anantharachagan, Philip Ancliff, Julie A. Anderson, Richard Antrobus, Ruth Armstrong, Gavin Arno, Gururaj Arumugakani, Rita Arya, Sofie Ashford, William J. Astle, Anthony Attwood, Steve Austin, Yeşim Aydınok, Waqar Ayub, Christian Babbs, Chiara Bacchelli, Trevor Baglin, Tamam Bakchoul, Tadbir K. Bariana, Jonathan Barratt, Julian Barwell, John Baski, Rachel W. Bates, Joana Batista, Helen E. Baxendale, Gareth Baynam, David Bennett, Claire Bethune, Neha Bhatnagar, Shahnaz Bibi, Agnieszka Bierżyńska, Tina Biss, Maria Bitner‐Glindzicz, Marta Bleda

2020Nature242 citationsDOIOpen Access PDF

Topics & Concepts

Primary immunodeficiencyWhole genome sequencingGenomeDNA sequencingBiologyHuman immunodeficiency virus (HIV)GeneticsComputational biologyMedicineVirologyDNAGeneImmune systemImmunodeficiency and Autoimmune DisordersGenomics and Rare DiseasesCystic Fibrosis Research Advances