1570013ad436aca2d69107d4ef96114c pmc_33627629.pdf 91bab7668c4b383073e4d64efedd39e52e418212 pmc_33627629.pdf e9d17883661cc6f10d0d7730a386b0fcbcfb71cad5791749716e126a56a9516c pmc_33627629.pdf Title: Long runs of homozygosity are associated with Alzheimer’s disease Subject: Translational Psychiatry, doi:10.1038/s41398-020-01145-1 Keywords: Author: Sonia Moreno-Grau Creator: Springer Producer: iText® 5.3.5 ©2000-2012 1T3XT BVBA (SPRINGER SBM; licensed version) CreationDate: Sat Feb 20 08:24:49 2021 CET ModDate: Wed Feb 24 14:28:41 2021 CET Custom Metadata: yes Metadata Stream: yes Tagged: no UserProperties: no Suspects: no Form: AcroForm JavaScript: no Pages: 12 Encrypted: no Page size: 595.276 x 790.866 pts Page rot: 0 File size: 2816525 bytes Optimized: no PDF version: 1.4 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- DINIDK+AdvOT0d9ab1db.I+03 Type 1C Custom yes yes yes 667 0 DINIIE+AdvOTce3d9a73 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yes no 315 0 DIPLNO+AdvOT0d9ab1db.I+20 Type 1C WinAnsi yes yes no 338 0 DIPLMN+AdvOTce3d9a73+20 Type 1C WinAnsi yes yes no 339 0 Jhove (Rel. 1.28.0, 2023-05-18) Date: 2024-10-02 03:29:52 CEST RepresentationInformation: pmc_33627629.pdf ReportingModule: PDF-hul, Rel. 1.12.4 (2023-03-16) LastModified: 2023-03-31 12:08:58 CEST Size: 2816525 Format: PDF Version: 1.4 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 833 FreeObjects: 1 IncrementalUpdates: 0 DocumentCatalog: PageLayout: SinglePage PageMode: UseOutlines Language: EN Outlines: Item: Title: Long runs of homozygosity are associated with’Alzheimer’s disease Destination: title_link Children: Item: Title: Introduction Destination: A1 Item: Title: Patients and methods Destination: A2 Children: Item: Title: Genotyping data Destination: B1 Item: Title: Runs of homozygosity (ROHs) exploration Destination: B2 Children: Item: Title: 1-Identification of individual ROHs Destination: C1 Item: Title: 2-Exploration of homozygosity parameters Destination: C2 Item: Title: 3-Identification of consensus ROHs Destination: C3 Item: Title: 4-Analyses Destination: C4 Item: Title: 4a-Association analysis between homozygosity parameters and AD risk Destination: D1 Item: Title: 4b-Association analysis between consensus ROHs and AD Destination: D2 Item: Title: 5-The homozygosity map of inbred AD individuals Destination: C5 Item: Title: 5a-Identificationn of inbred individuals Destination: D3 Item: Title: 5b-ROHs prioritization based on inbred AD cases Destination: D4 Item: Title: WES data Destination: B3 Children: Item: Title: 6-Candidate gene prioritization strategies using WES Destination: C6 Item: Title: 6a-Gene-based analysis Destination: D5 Item: Title: 6b-Variant filtering strategy for inbred AD cases with WES and GWAS data available Destination: D6 Item: Title: Results Destination: A3 Children: Item: Title: ROH parameters are associated with AD risk Destination: B4 Item: Title: ROH analysis of AD risk using the whole data set Destination: B5 Item: Title: Homozygosity mapping of AD using DNA segments identified in inbred cases Destination: B6 Item: Title: Discussion Destination: A4 Item: Title: Acknowledgements Destination: M1 Item: Title: Acknowledgements Destination: M1 Item: Title: Acknowledgements Destination: M1 Item: Title: Acknowledgements Destination: M1 Info: Title: Long runs of homozygosity are associated with Alzheimer’s disease Author: Sonia Moreno-Grau Subject: Translational Psychiatry, doi:10.1038/s41398-020-01145-1 Keywords: Creator: Springer Producer: iText® 5.3.5 ©2000-2012 1T3XT BVBA (SPRINGER SBM; licensed version) CreationDate: Sat Feb 20 08:54:49 CET 2021 ModDate: Wed Feb 24 14:28:41 CET 2021 ID: 0x4a8c73c961b0d10d5286c7d91775aeeb, 0xa55d5ca3e6ffe1146e2e2121268fbfd7 Filters: FilterPipeline: FlateDecode FilterPipeline: DCTDecode Images: Image: NisoImageMetadata: FormatName: image/jpg CompressionScheme: JPEG ImageWidth: 997 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FontSubset: true FirstChar: 43 LastChar: 61 FontDescriptor: FontName: DINIDL+AdvTTab7e17fd Flags: Nonsymbolic FontBBox: -156, -250, 1072, 947 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: DINIIF+AdvAGaramond-R FontSubset: true FirstChar: 35 LastChar: 95 FontDescriptor: FontName: DINIIF+AdvAGaramond-R Flags: Nonsymbolic FontBBox: -177, -260, 1093, 750 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: DINIFC+AdvOTf0bf83d5.I FontSubset: true FirstChar: 41 LastChar: 121 FontDescriptor: FontName: DINIFC+AdvOTf0bf83d5.I Flags: Serif, Nonsymbolic FontBBox: -187, -239, 1062, 875 FontFile3: true Encoding: WinAnsiEncoding XMP: application/pdf doi:10.1038/s41398-020-01145-1 Long runs of homozygosity are associated with Alzheimer’s disease Sonia Moreno-Grau Maria Victoria Fernández Itziar Rojas Pablo Garcia-González Isabel Hernández Fabiana Farias John P. Budde Inés Quintela Laura Madrid Antonio González-Pérez Laura Montrreal Emilio Alarcón-Martín Montserrat Alegret Olalla Maroñas Juan Antonio Pineda Juan Macías C. Abdelnour N. Aguilera E. Alarcón-Martín M. Alegret A. Benaque M. Boada M. Buendía P. Cañabate A. Carracedo A. Corbatón I. de Rojas S. Diego A. Espinosa A. Gailhajenet P. García González S. Gil M. Guitart A. González Pérez I. Hernández M. Ibarria A. Lafuente J. Macías O. Maroñas E. Martín M. T. Martínez M. Marquié A. Mauleón G. Monté-Rubio L. Montrreal S. Moreno-Grau M. Moreno A. Orellana G. Ortega A. Pancho E. Pelejà A. Pérez-Cordon J. A. Pineda S. Preckler I. Quintela L. M. Real O. Rodríguez-Gómez M. Rosende-Roca A. Ruiz S. Ruiz M. E. Sáez A. Sanabria M. A. Santos-Santos M. Serrano-Ríos O. Sotolongo-Grau L. Tárraga S. Valero L. Vargas A. D. Adarmes-Gómez E. Alarcón-Martín I. Álvarez V. Álvarez G. Amer-Ferrer M. Antequera C. Antúnez M. Baquero M. Bernal R. Blesa M. Boada D. Buiza-Rueda M. J. Bullido J. A. Burguera M. Calero F. Carrillo M. Carrión-Claro M. J. Casajeros J. Clarimón J. M. Cruz-Gamero M. M. de Pancorbo I. de Rojas T. del Ser M. Diez-Fairen J. Fortea E. Franco A. Frank-García J. M. García-Alberca S. García Madrona G. Garcia-Ribas P. Gómez-Garre I. Hernández S. Hevilla S. Jesús M. A. Labrador Espinosa C. Lage A. Legaz A. Lleó A. López de Munáin S. López-García D. Macías S. Manzanares M. Marín J. Marín-Muñoz T. Marín M. Marquié A. Martín-Montes B. Martínez C. Martínez V. Martínez P. Martínez-Lage Álvarez M. Medina M. Mendioroz Iriarte M. Menéndez-González P. Mir J. L. Molinuevo L. Montrreal S. Moreno-Grau A. Orellana A. B. Pastor P. Pastor J. Pérez-Tur T. Periñán-Tocino G. Piñol-Ripoll A. Rábano D. Real de Asúa S. Rodrigo E. Rodríguez-Rodríguez J. L. Royo A. Ruiz R. Sanchez del Valle Díaz P. Sánchez-Juan I. Sastre O. Sotolongo-Grau L. Tárraga S. Valero M. P. Vicente L. Vivancos Marta Marquié Sergi Valero Alba Benaque Jordi Clarimón Maria Jesus Bullido Guillermo García-Ribas Pau Pástor Pascual Sánchez-Juan Victoria Álvarez Gerard Piñol-Ripoll Jose María García-Alberca José Luis Royo Emilio Franco-Macías Pablo Mir Miguel Calero Miguel Medina Alberto Rábano Jesús Ávila Carmen Antúnez Luis Miguel Real Adelina Orellana Ángel Carracedo María Eugenia Sáez Lluís Tárraga Mercè Boada Carlos Cruchaga Agustín Ruiz Springer US Translational Psychiatry, doi:10.1038/s41398-020-01145-1 10.1038/s41398-020-01145-1 http://dx.doi.org/10.1038/s41398-020-01145-1 journal Translational Psychiatry © 2021, The Author(s) 2158-3188 10.1038/s41398-020-01145-1 springer.com springerlink.com 2010-04-23 True 10.1038/s41398-020-01145-1 springer.com springerlink.com Springer 2021-02-24T14:28:41+01:00 2021-02-20T12:54:49+05:30 2021-02-24T14:28:41+01:00 True iText® 5.3.5 ©2000-2012 1T3XT BVBA (SPRINGER SBM; licensed version) VoR uuid:79f37238-3aff-4405-9dab-7b5c9667cf70 uuid:b60a9dec-793d-4f1d-90ba-dda2049a8c21 default 1 converted uuid:9b78e957-083f-40ca-9ea5-b1e0edca64e9 converted to PDF/A-2b pdfToolbox 2021-02-20T12:55:04+05:30 2 B Maria Victoria Fernández http://orcid.org/0000-0002-9669-5147 Itziar Rojas http://orcid.org/0000-0002-2148-381X Pablo Garcia-González http://orcid.org/0000-0003-0125-5403 Fabiana Farias http://orcid.org/0000-0002-5215-7304 John P. 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In lieu of using #other please reach out to the PRISM group at info@prismstandard.org to request addition of your term to the Aggregation Type Controlled Vocabulary. aggregationType Text external Copyright copyright Text external The Digital Object Identifier for the article. The DOI may also be used as the dc:identifier. If used as a dc:identifier, the URI form should be captured, and the bare identifier should also be captured using prism:doi. If an alternate unique identifier is used as the required dc:identifier, then the DOI should be specified as a bare identifier within prism:doi only. If the URL associated with a DOI is to be specified, then prism:url may be used in conjunction with prism:doi in order to provide the service endpoint (i.e. the URL). doi Text external ISSN for an electronic version of the issue in which the resource occurs. Permits publishers to include a second ISSN, identifying an electronic version of the issue in which the resource occurs (therefore e(lectronic)Issn. If used, prism:eIssn MUST contain the ISSN of the electronic version. See prism:issn. issn Text external Title of the magazine, or other publication, in which a resource was/will be published. Typically this will be used to provide the name of the magazine an article appeared in as metadata for the article, along with information such as the article title, the publisher, volume, number, and cover date. Note: Publication name can be used to differentiate between a print magazine and the online version if the names are different such as “magazine” and “magazine.com.” publicationName Text external This element provides the url for an article or unit of content. The attribute platform is optionally allowed for situations in which multiple URLs must be specified. PRISM recommends that a subset of the PCV platform values, namely “mobile” and “web”, be used in conjunction with this element. NOTE: PRISM recommends against the use of the #other value allowed in the PRISM Platform controlled vocabulary. In lieu of using #other please reach out to the PRISM group at prism-wg@yahoogroups.com to request addition of your term to the Platform Controlled Vocabulary. url Text http://springernature.com/ns/xmpExtensions/2.0/ sn Springer Nature ORCID Schema external Author information: contains the name of each author and his/her ORCID (ORCiD: Open Researcher and Contributor ID). An ORCID is a persistent identifier (a non-proprietary alphanumeric code) to uniquely identify scientific and other academic authors. authorInfo Bag AuthorInformation Specifies the types of author information: name and ORCID of an author. http://springernature.com/ns/xmpExtensions/2.0/authorInfo/ author AuthorInformation Gives the name of an author. name Text Gives the ORCID of an author. orcid URI http://www.niso.org/schemas/jav/1.0/ jav NISO external Values for Journal Article Version are one of the following: AO = Author’s Original SMUR = Submitted Manuscript Under Review AM = Accepted Manuscript P = Proof VoR = Version of Record CVoR = Corrected Version of Record EVoR = Enhanced Version of Record journal_article_version Closed Choice of Text Pages: Page: Label: 1 Annotations: Annotation: Subtype: Link Rect: 252, 603, 253, 614 Flags: Print AppearanceDictionary: true Annotation: Subtype: Link Rect: 252, 603, 253, 614 Flags: Print AppearanceDictionary: true Annotation: Subtype: Link 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