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PageMode: UseOutlines Language: EN Outlines: Item: Title: Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@eafc191 Children: Item: Title: Results Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@612fc6eb Children: Item: Title: Genomic regions with high constraint, but not conservation, were enriched for regulatory, non-coding genomic features Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1060b431 Item: Title: Genes with the highest density of CNCRs are enriched for long non-coding RNA Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@612679d6 Item: Title: Significant enrichment of heritability for neurologically relevant phenotypes Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@11758f2a Item: Title: The proportion of enriched gene sets with neurologically related GO terms increases in genes with the highest density of CNCRs Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@e720b71 Item: Title: CNCR annotation highlights an intron-3 retaining transcript of APOE Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1b26f7b2 Item: Title: Usage of the intron-3 retaining transcript of APOE correlates with Alzheimer’s disease pathology and APOE genotype Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@491cc5c9 Item: Title: Discussion Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@74ad1f1f Item: Title: Methods Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6a1aab78 Children: Item: Title: Generation of an annotation for the identification of CNCRs Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@462d5aee Item: Title: Investigating the relationship between CNCRs and existing annotation Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@69b0fd6f Item: Title: Enrichment of common-SNP heritability in brain-related phenotypes for CNCRs Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@757942a1 Item: Title: Generation of a gene-based metric for CNCRs and gene set enrichment analysis Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4a87761d Item: Title: Sequencing of APOE transcripts in human brain Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@66d1af89 Item: Title: Quantifying differences in intron-3 retention between different species Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@8646db9 Item: Title: Analysis of public RNA-sequencing data Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@37374a5e Item: Title: Reporting summary Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4671e53b Item: Title: Data availability Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@2db7a79b Item: Title: References Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6950e31 Item: Title: Acknowledgements Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@b7dd107 Item: Title: Author contributions Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@42eca56e Item: Title: Competing interests Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@52f759d7 Item: Title: Additional information Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7cbd213e Info: Title: Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage Author: Zhongbo Chen Subject: Nature Communications, doi:10.1038/s41467-021-22262-5 Keywords: Creator: Springer Producer: iText® 5.3.5 ©2000-2012 1T3XT BVBA (SPRINGER SBM; licensed version) CreationDate: Sat Mar 27 18:51:44 CET 2021 ModDate: Mon Mar 29 18:07:10 CEST 2021 ID: 0x1bf34126074382589a1783662558431f, 0xa222ae736efc5b0e96941b797eeee107 Filters: FilterPipeline: 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FontName: OBIJAE+AdvOTe75a9404.I Flags: Nonsymbolic FontBBox: -83, -197, 1020, 906 FontFile3: true Encoding: WinAnsiEncoding XMP: application/pdf doi:10.1038/s41467-021-22262-5 Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage Zhongbo Chen David Zhang Regina H. Reynolds Emil K. Gustavsson Sonia García-Ruiz Karishma D’Sa Aine Fairbrother-Browne Jana Vandrovcova Alastair J. Noyce Rauan Kaiyrzhanov Ben Middlehurst Demis A. Kia Manuela Tan Huw R. Morris Helene Plun-Favreau Peter Holmans Daniah Trabzuni Jose Bras John Quinn Kin Y. Mok Kerri J. Kinghorn Kimberley Billingsley Nicholas W. Wood Patrick Lewis Sebastian Schreglmann Rita Guerreiro Ruth Lovering Lea R’Bibo Claudia Manzoni Mie Rizig Sebastian Guelfi Valentina Escott-Price Viorica Chelban Thomas Foltynie Nigel Williams Alexis Brice Fabrice Danjou Suzanne Lesage Jean-Christophe Corvol Maria Martinez Claudia Schulte Kathrin Brockmann Javier Simón-Sánchez Peter Heutink Patrizia Rizzu Manu Sharma Thomas Gasser Aude Nicolas Mark R. Cookson Sara Bandres-Ciga Cornelis Blauwendraat David W. Craig Faraz Faghri J. Raphael Gibbs Dena G. Hernandez Kendall Van Keuren-Jensen Joshua M. Shulman Hampton L. Leonard Mike A. Nalls Laurie Robak Steven Lubbe Steven Finkbeiner Niccolo E. Mencacci Codrin Lungu Andrew B. Singleton Sonja W. Scholz Xylena Reed Roy N. Alcalay Ziv Gan-Or Guy A. Rouleau Lynne Krohn Jacobus J. van Hilten Johan Marinus Astrid D. Adarmes-Gómez Miquel Aguilar Ignacio Alvarez Victoria Alvarez Francisco Javier Barrero Jesús Alberto Bergareche Yarza Inmaculada Bernal-Bernal Marta Blazquez Marta Bonilla-Toribio Juan A. Botía María Teresa Boungiorno Dolores Buiza-Rueda Ana Cámara Fátima Carrillo Mario Carrión-Claro Debora Cerdan Jordi Clarimón Yaroslau Compta Monica Diez-Fairen Oriol Dols-Icardo Jacinto Duarte Raquel Duran Francisco Escamilla-Sevilla Mario Ezquerra Cici Feliz Manel Fernández Rubén Fernández-Santiago Ciara Garcia Pedro García-Ruiz Pilar Gómez-Garre Maria Jose Gomez Heredia Isabel Gonzalez-Aramburu Ana Gorostidi Pagola Janet Hoenicka Jon Infante Silvia Jesús Adriano Jimenez-Escrig Jaime Kulisevsky Miguel A. Labrador-Espinosa Jose Luis Lopez-Sendon Adolfo López de Munain Arregui Daniel Macias Irene Martínez Torres Juan Marín Maria Jose Marti Juan Carlos Martínez-Castrillo Carlota Méndez-del-Barrio Manuel Menéndez González Marina Mata Adolfo Mínguez Pablo Mir Elisabet Mondragon Rezola Esteban Muñoz Javier Pagonabarraga Pau Pastor Francisco Perez Errazquin Teresa Periñán-Tocino Javier Ruiz-Martínez Clara Ruz Antonio Sanchez Rodriguez María Sierra Esther Suarez-Sanmartin Cesar Tabernero Juan Pablo Tartari Cristina Tejera-Parrado Eduard Tolosa Francesc Valldeoriola Laura Vargas-González Lydia Vela Francisco Vives Alexander Zimprich Lasse Pihlstrom Mathias Toft Sulev Koks Pille Taba Sharon Hassin-Baer John Hardy Henry Houlden Sarah A. Gagliano Taliun Juan Botía Mina Ryten Springer US Nature Communications, doi:10.1038/s41467-021-22262-5 10.1038/s41467-021-22262-5 http://dx.doi.org/10.1038/s41467-021-22262-5 journal Nature Communications © 2021, The Author(s) 2041-1723 10.1038/s41467-021-22262-5 springer.com springerlink.com 2010-04-23 True 10.1038/s41467-021-22262-5 springer.com springerlink.com Springer 2021-03-29T18:07:10+02:00 2021-03-27T22:51:44+05:30 2021-03-29T18:07:10+02:00 True iText® 5.3.5 ©2000-2012 1T3XT BVBA (SPRINGER SBM; licensed version) VoR uuid:f5c25356-3367-44e2-baf5-c2f5c6a698e6 uuid:59a9efe3-a694-4160-9525-187afcd3fc22 default 1 converted uuid:05f42aec-2234-49a9-96c5-63a8bd2d3136 converted to PDF/A-2b pdfToolbox 2021-03-27T22:52:40+05:30 2 B Regina H. Reynolds http://orcid.org/0000-0001-6470-7919 Emil K. Gustavsson http://orcid.org/0000-0003-0541-7537 Henry Houlden http://orcid.org/0000-0002-2866-7777 Sarah A. 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