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Rare variant contribution to human disease in 281,104 UK Biobank exomes.
Wang, Quanli; Dhindsa, Ryan S; Carss, Keren; Harper, Andrew R; Nag, Abhishek; Tachmazidou, Ioanna; Vitsios, Dimitrios; Deevi, Sri V V; Mackay, Alex; Muthas, Daniel; Hühn, Michael; Monkley, Susan; Olsson, Henric; Wasilewski, Sebastian; Smith, Katherine R; March, Ruth; Platt, Adam; Haefliger, Carolina; Petrovski, Slavé.
Afiliação
  • Wang Q; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Waltham, MA, USA.
  • Dhindsa RS; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Waltham, MA, USA.
  • Carss K; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
  • Harper AR; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
  • Nag A; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
  • Tachmazidou I; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
  • Vitsios D; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
  • Deevi SVV; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
  • Mackay A; Translational Science and Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden.
  • Muthas D; Translational Science and Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden.
  • Hühn M; Translational Science and Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden.
  • Monkley S; Translational Science and Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden.
  • Olsson H; Translational Science and Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden.
  • Wasilewski S; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
  • Smith KR; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
  • March R; Precision Medicine & Biosamples, Oncology R&D, AstraZeneca, Cambridge, UK.
  • Platt A; Translational Science and Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
  • Haefliger C; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
  • Petrovski S; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK. slav.petrovski@astrazeneca.com.
Nature ; 597(7877): 527-532, 2021 09.
Article em En | MEDLINE | ID: mdl-34375979

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Doença / Bancos de Espécimes Biológicos / Bases de Dados Genéticas / Exoma Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Nature Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Doença / Bancos de Espécimes Biológicos / Bases de Dados Genéticas / Exoma Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Nature Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos