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edu.harvard.hul.ois.jhove.module.pdf.PdfInvalidException: Invalid indirect destination - referenced object 'appsec3' cannot be found ID: PDF-HUL-122 Offset: 3290413 MIMEtype: application/pdf Profile: Linearized PDF PDFMetadata: Objects: 907 FreeObjects: 1 IncrementalUpdates: 1 DocumentCatalog: PageLayout: SinglePage PageMode: UseOutlines Language: en Outlines: Item: Title: Stratified analyses refine association between TLR7 rare variants and severe COVID-19 Destination: titlink1 Children: Item: Title: Introduction Destination: flink1 Item: Title: Subjects and methods Destination: flink2 Children: Item: Title: Candidate gene selection Destination: slink1 Item: Title: Study design and phenotype definition Destination: slink2 Item: Title: Cohort characteristics Destination: slink3 Item: Title: QC and data processing Destination: slink4 Item: Title: Single-variant analysis Destination: slink5 Children: Item: Title: Analysis of the present cohort Destination: tlink1 Item: Title: Replication cohorts Destination: tlink2 Item: Title: Gene-based rare variant collapsing analysis Destination: slink6 Children: Item: Title: Definition of variant classes Destination: tlink3 Item: Title: TLR7-specific variant definitions Destination: tlink4 Item: Title: Statistical analysis Destination: tlink5 Item: Title: Results Destination: flink3 Children: Item: Title: Single-variant analyses identify etiological variant in TBK1 Destination: slink7 Item: Title: Gene-based rare variant collapsing analysis confirms TLR7 association Destination: slink8 Item: Title: Identification of a low-frequency TLR7 risk variant in the Spanish population Destination: slink9 Item: Title: Incorporation of functional and protein data increases TLR7 rare variant effect sizes Destination: slink10 Item: Title: Investigation of domain- and sex-specific variant effects in TLR7 Destination: slink11 Item: Title: Discussion Destination: flink4 Item: Title: Data and code availability Destination: flink5 Item: Title: Supplemental information Destination: appsec2 Item: Title: Acknowledgments Destination: flink7 Item: Title: Author contributions Destination: flink8 Item: Title: Declaration of interests Destination: flink9 Item: Title: Web resources Destination: flink10 Item: Title: References Destination: blink1 Info: Title: Stratified analyses refine association between TLR7 rare variants and severe COVID-19 Author: Jannik Boos Subject: Human Genetics and Genomics Advances, 5 (2024) 100323. doi:10.1016/j.xhgg.2024.100323 Creator: Elsevier Producer: Acrobat Distiller 8.1.0 (Windows) CreationDate: Tue Jul 23 21:55:33 CEST 2024 ModDate: Tue Jul 23 22:00:45 CEST 2024 ID: 0xcfef655fbdd983932a16bf6cd7ec20ed, 0x02b603b91d97cf48a987c81cacfc03b6 Filters: FilterPipeline: FlateDecode FilterPipeline: DCTDecode Images: Image: NisoImageMetadata: FormatName: image/jpg CompressionScheme: JPEG ImageWidth: 69 ImageHeight: 68 BitsPerSample: 8 BitsPerSampleUnit: integer ColorSpace: ICCBased Image: NisoImageMetadata: 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KKNDKB+Helvetica-Bold Flags: Nonsymbolic, ForceBold FontBBox: -170, -228, 1003, 962 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KKNCEF+AdvP7DED FontSubset: true FirstChar: 51 LastChar: 51 FontDescriptor: FontName: KKNCEF+AdvP7DED Flags: Nonsymbolic FontBBox: -20, -229, 927, 770 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KKNDMC+AdvPS4731B1 FontSubset: true FirstChar: 82 LastChar: 82 FontDescriptor: FontName: KKNDMC+AdvPS4731B1 Flags: Nonsymbolic FontBBox: 0, -208, 1572, 802 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: KKNCEB+AdvP978E FontSubset: true FirstChar: 40 LastChar: 222 FontDescriptor: FontName: KKNCEB+AdvP978E Flags: Nonsymbolic FontBBox: -145, -250, 1145, 791 FontFile3: true Encoding: MacRomanEncoding XMP: application/pdf doi:10.1016/j.xhgg.2024.100323 Stratified analyses refine association between TLR7 rare variants and severe COVID-19 Jannik Boos Caspar I. van der Made Gayatri Ramakrishnan Eamon Coughlan Rosanna Asselta Britt-Sabina Löscher Luca V.C. Valenti Rafael de Cid Luis Bujanda Antonio Julià Erola Pairo-Castineira J. Kenneth Baillie Sandra May Berina Zametica Julia Heggemann Agustín Albillos Jesus M. Banales Jordi Barretina Natalia Blay Paolo Bonfanti Maria Buti Javier Fernandez Sara Marsal Daniele Prati Luisa Ronzoni Nicoletta Sacchi The Spanish/Italian Severe COVID-19 Sequencing group Valeria Rimoldi Elvezia M. Paraboschi Alessandra Bandera Flora Peyvandi Giacomo Grasselli Francesco Blasi Francesco Malvestiti Serena Pelusi Cristiana Bianco Lorenzo Miano Angela Lombardi Pietro Invernizzi Alessio Gerussi Giuseppe Citerio Andrea Biondi Maria Grazia Valsecchi Marina Elena Cazzaniga Giuseppe Foti Ilaria Beretta Mariella D'Angiò Laura Rachele Bettini Xavier Farré Susana Iraola-Guzmán Manolis Kogevinas Gemma Castaño-Vinyals Koldo Garcia-Etxebarria Beatriz Nafria Mauro D'Amato Adriana Palom GenOMICC Investigators Colin Begg Sara Clohisey Charles Hinds Peter Horby Julian Knight Lowell Ling David Maslove Danny McAuley Johnny Millar Hugh Montgomery Alistair Nichol Peter J.M. Openshaw Alexandre C. Pereira Chris P. Ponting Kathy Rowan Malcolm G. Semple Manu Shankar-Hari Charlotte Summers Timothy Walsh J. Kenneth Baillie Latha Aravindan Ruth Armstrong Heather Biggs Ceilia Boz Adam Brown Richard Clark Sara Clohisey Audrey Coutts Judy Coyle Louise Cullum Sukamal Das Nicky Day Lorna Donnelly Esther Duncan Angie Fawkes Paul Fineran Max Head Fourman Anita Furlong James Furniss Bernadette Gallagher Tammy Gilchrist Ailsa Golightly Fiona Griffiths Katarzyna Hafezi Debbie Hamilton Ross Hendry Andy Law Dawn Law Rachel Law Sarah Law Rebecca Lidstone-Scott Louise Macgillivray Alan Maclean Hanning Mal Sarah McCafferty Ellie Mcmaster Jen Meikle Shona C. Moore Kirstie Morrice Lee Murphy Sheena Murphy Mybaya Hellen Wilna Oosthuyzen Chenqing Zheng Jiantao Chen Nick Parkinson Trevor Paterson Katherine Schon Andrew Stenhouse Mihaela Das Maaike Swets Helen Szoor-McElhinney Filip Taneski Lance Turtle Tony Wackett Mairi Ward Jane Weaver Nicola Wrobel Marie Zechner Mybaya Hellen Gill Arbane Aneta Bociek Sara Campos Neus Grau Tim Owen Jones Rosario Lim Martina Marotti Marlies Ostermann Manu Shankar-Hari Christopher Whitton Zoe Alldis Raine Astin-Chamberlain Fatima Bibi Jack Biddle Sarah Blow Matthew Bolton Catherine Borra Ruth Bowles Maudrian Burton Yasmin Choudhury David Collier Amber Cox Amy Easthope Patrizia Ebano Stavros Fotiadis Jana Gurasashvili Rosslyn Halls Pippa Hartridge Delordson Kallon Jamila Kassam Ivone Lancoma-Malcolm Maninderpal Matharu Peter May Oliver Mitchelmore Tabitha Newman Mital Patel Jane Pheby Irene Pinzuti Zoe Prime Oleksandra Prysyazhna Julian Shiel Melanie Taylor Carey Tierney Suzanne Wood Anne Zak Olivier Zongo Stephen Bonner Keith Hugill Jessica Jones Steven Liggett Evie Headlam Nageswar Bandla Minnie Gellamucho Michelle Davies Christopher Thompson Marwa Abdelrazik Dhanalakshmi Bakthavatsalam Munzir Elhassan Arunkumar Ganesan Anne Haldeos Jeronimo Moreno-Cuesta Dharam Purohit Rachel Vincent Kugan Xavier Kumar Rohit Frater Alasdair Malik Saleem Carter David Jenkins Samuel Zoe Lamond Wall Alanna Jaime Fernandez-Roman David O. 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