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  1. Article ; Online: Genomic architecture of autism from comprehensive whole-genome sequence annotation

    Trost, Brett / Thiruvahindrapuram, Bhooma / Chan, Ada J.S. / Engchuan, Worrawat / Higginbotham, Edward J. / Howe, Jennifer L. / Loureiro, Livia O. / Reuter, Miriam S. / Roshandel, Delnaz / Whitney, Joe / Zarrei, Mehdi / Bookman, Matthew / Somerville, Cherith / Shaath, Rulan / Abdi, Mona / Aliyev, Elbay / Patel, Rohan V. / Nalpathamkalam, Thomas / Pellecchia, Giovanna /
    Hamdan, Omar / Kaur, Gaganjot / Wang, Zhuozhi / MacDonald, Jeffrey R. / Wei, John / Sung, Wilson W.L. / Lamoureux, Sylvia / Hoang, Ny / Selvanayagam, Thanuja / Deflaux, Nicole / Geng, Melissa / Ghaffari, Siavash / Bates, John / Young, Edwin J. / Ding, Qiliang / Shum, Carole / D'Abate, Lia / Bradley, Clarrisa A. / Rutherford, Annabel / Aguda, Vernie / Apresto, Beverly / Chen, Nan / Desai, Sachin / Du, Xiaoyan / Fong, Matthew L.Y. / Pullenayegum, Sanjeev / Samler, Kozue / Wang, Ting / Ho, Karen / Paton, Tara / Pereira, Sergio L. / Herbrick, Jo-Anne / Wintle, Richard F. / Fuerth, Jonathan / Noppornpitak, Juti / Ward, Heather / Magee, Patrick / Al Baz, Ayman / Kajendirarajah, Usanthan / Kapadia, Sharvari / Vlasblom, Jim / Valluri, Monica / Green, Joseph / Seifer, Vicki / Quirbach, Morgan / Rennie, Olivia / Kelley, Elizabeth / Masjedi, Nina / Lord, Catherine / Szego, Michael J. / Zawati, Ma'n H. / Lang, Michael / Strug, Lisa J. / Marshall, Christian R. / Costain, Gregory / Calli, Kristina / Iaboni, Alana / Yusuf, Afiqah / Ambrozewicz, Patricia / Gallagher, Louise / Amaral, David G. / Brian, Jessica / Elsabbagh, Mayada / Geōrgiadēs, Stelios / Messinger, Daniel S. / Ozonoff, Sally / Sebat, Jonathan / Sjaarda, Calvin / Smith, Isabel M. / Szatmari, Peter / Zwaigenbaum, Lonnie / Kushki, Azadeh / Frazier, Thomas W. / Vorstman, Jacob A.S. / Fakhro, Khalid A. / Fernandez, Bridget A. / Lewis, M.E. Suzanne / Weksberg, Rosanna / Fiume, Marc / Yuen, Ryan K.C. / Anagnostou, Evdokia / Sondheimer, Neal / Glazer, David / Hartley, Dean M. / Scherer, Stephen W.

    Cell. 2022 Nov., v. 185, no. 23 p.4409-4427.e18

    2022  

    Abstract: Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents and ... ...

    Abstract Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents and siblings (total n = 11,312). Examining a wide variety of genetic variants in MSSNG and the Simons Simplex Collection (SSC; n = 9,205), we identified ASD-associated rare variants in 718/5,100 individuals with ASD from MSSNG (14.1%) and 350/2,419 from SSC (14.5%). Considering genomic architecture, 52% were nuclear sequence-level variants, 46% were nuclear structural variants (including copy-number variants, inversions, large insertions, uniparental isodisomies, and tandem repeat expansions), and 2% were mitochondrial variants. Our study provides a guidebook for exploring genotype-phenotype correlations in families who carry ASD-associated rare variants and serves as an entry point to the expanded studies required to dissect the etiology in the ∼85% of the ASD population that remain idiopathic.
    Keywords autism ; etiology ; genomics ; genotype-phenotype correlation ; mitochondria ; autism spectrum disorder ; neurodevelopmental disorders ; whole-genome sequencing ; copy-number variation ; structural variation ; rare variants ; polygenic risk scores ; phenotype measures
    Language English
    Dates of publication 2022-11
    Size p. 4409-4427.e18.
    Publishing place Elsevier Inc.
    Document type Article ; Online
    ZDB-ID 187009-9
    ISSN 1097-4172 ; 0092-8674
    ISSN (online) 1097-4172
    ISSN 0092-8674
    DOI 10.1016/j.cell.2022.10.009
    Database NAL-Catalogue (AGRICOLA)

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  2. Article ; Online: Genomic architecture of autism from comprehensive whole-genome sequence annotation.

    Trost, Brett / Thiruvahindrapuram, Bhooma / Chan, Ada J S / Engchuan, Worrawat / Higginbotham, Edward J / Howe, Jennifer L / Loureiro, Livia O / Reuter, Miriam S / Roshandel, Delnaz / Whitney, Joe / Zarrei, Mehdi / Bookman, Matthew / Somerville, Cherith / Shaath, Rulan / Abdi, Mona / Aliyev, Elbay / Patel, Rohan V / Nalpathamkalam, Thomas / Pellecchia, Giovanna /
    Hamdan, Omar / Kaur, Gaganjot / Wang, Zhuozhi / MacDonald, Jeffrey R / Wei, John / Sung, Wilson W L / Lamoureux, Sylvia / Hoang, Ny / Selvanayagam, Thanuja / Deflaux, Nicole / Geng, Melissa / Ghaffari, Siavash / Bates, John / Young, Edwin J / Ding, Qiliang / Shum, Carole / D'Abate, Lia / Bradley, Clarrisa A / Rutherford, Annabel / Aguda, Vernie / Apresto, Beverly / Chen, Nan / Desai, Sachin / Du, Xiaoyan / Fong, Matthew L Y / Pullenayegum, Sanjeev / Samler, Kozue / Wang, Ting / Ho, Karen / Paton, Tara / Pereira, Sergio L / Herbrick, Jo-Anne / Wintle, Richard F / Fuerth, Jonathan / Noppornpitak, Juti / Ward, Heather / Magee, Patrick / Al Baz, Ayman / Kajendirarajah, Usanthan / Kapadia, Sharvari / Vlasblom, Jim / Valluri, Monica / Green, Joseph / Seifer, Vicki / Quirbach, Morgan / Rennie, Olivia / Kelley, Elizabeth / Masjedi, Nina / Lord, Catherine / Szego, Michael J / Zawati, Ma'n H / Lang, Michael / Strug, Lisa J / Marshall, Christian R / Costain, Gregory / Calli, Kristina / Iaboni, Alana / Yusuf, Afiqah / Ambrozewicz, Patricia / Gallagher, Louise / Amaral, David G / Brian, Jessica / Elsabbagh, Mayada / Georgiades, Stelios / Messinger, Daniel S / Ozonoff, Sally / Sebat, Jonathan / Sjaarda, Calvin / Smith, Isabel M / Szatmari, Peter / Zwaigenbaum, Lonnie / Kushki, Azadeh / Frazier, Thomas W / Vorstman, Jacob A S / Fakhro, Khalid A / Fernandez, Bridget A / Lewis, M E Suzanne / Weksberg, Rosanna / Fiume, Marc / Yuen, Ryan K C / Anagnostou, Evdokia / Sondheimer, Neal / Glazer, David / Hartley, Dean M / Scherer, Stephen W

    Cell

    2022  Volume 185, Issue 23, Page(s) 4409–4427.e18

    Abstract: Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents and ... ...

    Abstract Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents and siblings (total n = 11,312). Examining a wide variety of genetic variants in MSSNG and the Simons Simplex Collection (SSC; n = 9,205), we identified ASD-associated rare variants in 718/5,100 individuals with ASD from MSSNG (14.1%) and 350/2,419 from SSC (14.5%). Considering genomic architecture, 52% were nuclear sequence-level variants, 46% were nuclear structural variants (including copy-number variants, inversions, large insertions, uniparental isodisomies, and tandem repeat expansions), and 2% were mitochondrial variants. Our study provides a guidebook for exploring genotype-phenotype correlations in families who carry ASD-associated rare variants and serves as an entry point to the expanded studies required to dissect the etiology in the ∼85% of the ASD population that remain idiopathic.
    MeSH term(s) Humans ; Autism Spectrum Disorder/genetics ; Autistic Disorder ; Genetic Predisposition to Disease ; DNA Copy Number Variations/genetics ; Genomics
    Language English
    Publishing date 2022-10-20
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 187009-9
    ISSN 1097-4172 ; 0092-8674
    ISSN (online) 1097-4172
    ISSN 0092-8674
    DOI 10.1016/j.cell.2022.10.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1167: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (1.OG)
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    Zs.MG 58: Show issues

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  3. Article ; Online: GA4GH: International policies and standards for data sharing across genomic research and healthcare.

    Rehm, Heidi L / Page, Angela J H / Smith, Lindsay / Adams, Jeremy B / Alterovitz, Gil / Babb, Lawrence J / Barkley, Maxmillian P / Baudis, Michael / Beauvais, Michael J S / Beck, Tim / Beckmann, Jacques S / Beltran, Sergi / Bernick, David / Bernier, Alexander / Bonfield, James K / Boughtwood, Tiffany F / Bourque, Guillaume / Bowers, Sarion R / Brookes, Anthony J /
    Brudno, Michael / Brush, Matthew H / Bujold, David / Burdett, Tony / Buske, Orion J / Cabili, Moran N / Cameron, Daniel L / Carroll, Robert J / Casas-Silva, Esmeralda / Chakravarty, Debyani / Chaudhari, Bimal P / Chen, Shu Hui / Cherry, J Michael / Chung, Justina / Cline, Melissa / Clissold, Hayley L / Cook-Deegan, Robert M / Courtot, Mélanie / Cunningham, Fiona / Cupak, Miro / Davies, Robert M / Denisko, Danielle / Doerr, Megan J / Dolman, Lena I / Dove, Edward S / Dursi, L Jonathan / Dyke, Stephanie O M / Eddy, James A / Eilbeck, Karen / Ellrott, Kyle P / Fairley, Susan / Fakhro, Khalid A / Firth, Helen V / Fitzsimons, Michael S / Fiume, Marc / Flicek, Paul / Fore, Ian M / Freeberg, Mallory A / Freimuth, Robert R / Fromont, Lauren A / Fuerth, Jonathan / Gaff, Clara L / Gan, Weiniu / Ghanaim, Elena M / Glazer, David / Green, Robert C / Griffith, Malachi / Griffith, Obi L / Grossman, Robert L / Groza, Tudor / Auvil, Jaime M Guidry / Guigó, Roderic / Gupta, Dipayan / Haendel, Melissa A / Hamosh, Ada / Hansen, David P / Hart, Reece K / Hartley, Dean Mitchell / Haussler, David / Hendricks-Sturrup, Rachele M / Ho, Calvin W L / Hobb, Ashley E / Hoffman, Michael M / Hofmann, Oliver M / Holub, Petr / Hsu, Jacob Shujui / Hubaux, Jean-Pierre / Hunt, Sarah E / Husami, Ammar / Jacobsen, Julius O / Jamuar, Saumya S / Janes, Elizabeth L / Jeanson, Francis / Jené, Aina / Johns, Amber L / Joly, Yann / Jones, Steven J M / Kanitz, Alexander / Kato, Kazuto / Keane, Thomas M / Kekesi-Lafrance, Kristina / Kelleher, Jerome / Kerry, Giselle / Khor, Seik-Soon / Knoppers, Bartha M / Konopko, Melissa A / Kosaki, Kenjiro / Kuba, Martin / Lawson, Jonathan / Leinonen, Rasko / Li, Stephanie / Lin, Michael F / Linden, Mikael / Liu, Xianglin / Udara Liyanage, Isuru / Lopez, Javier / Lucassen, Anneke M / Lukowski, Michael / Mann, Alice L / Marshall, John / Mattioni, Michele / Metke-Jimenez, Alejandro / Middleton, Anna / Milne, Richard J / Molnár-Gábor, Fruzsina / Mulder, Nicola / Munoz-Torres, Monica C / Nag, Rishi / Nakagawa, Hidewaki / Nasir, Jamal / Navarro, Arcadi / Nelson, Tristan H / Niewielska, Ania / Nisselle, Amy / Niu, Jeffrey / Nyrönen, Tommi H / O'Connor, Brian D / Oesterle, Sabine / Ogishima, Soichi / Wang, Vivian Ota / Paglione, Laura A D / Palumbo, Emilio / Parkinson, Helen E / Philippakis, Anthony A / Pizarro, Angel D / Prlic, Andreas / Rambla, Jordi / Rendon, Augusto / Rider, Renee A / Robinson, Peter N / Rodarmer, Kurt W / Rodriguez, Laura Lyman / Rubin, Alan F / Rueda, Manuel / Rushton, Gregory A / Ryan, Rosalyn S / Saunders, Gary I / Schuilenburg, Helen / Schwede, Torsten / Scollen, Serena / Senf, Alexander / Sheffield, Nathan C / Skantharajah, Neerjah / Smith, Albert V / Sofia, Heidi J / Spalding, Dylan / Spurdle, Amanda B / Stark, Zornitza / Stein, Lincoln D / Suematsu, Makoto / Tan, Patrick / Tedds, Jonathan A / Thomson, Alastair A / Thorogood, Adrian / Tickle, Timothy L / Tokunaga, Katsushi / Törnroos, Juha / Torrents, David / Upchurch, Sean / Valencia, Alfonso / Guimera, Roman Valls / Vamathevan, Jessica / Varma, Susheel / Vears, Danya F / Viner, Coby / Voisin, Craig / Wagner, Alex H / Wallace, Susan E / Walsh, Brian P / Williams, Marc S / Winkler, Eva C / Wold, Barbara J / Wood, Grant M / Woolley, J Patrick / Yamasaki, Chisato / Yates, Andrew D / Yung, Christina K / Zass, Lyndon J / Zaytseva, Ksenia / Zhang, Junjun / Goodhand, Peter / North, Kathryn / Birney, Ewan

    Cell genomics

    2022  Volume 1, Issue 2

    Abstract: The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic ... ...

    Abstract The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits.
    Language English
    Publishing date 2022-02-24
    Publishing country United States
    Document type Journal Article
    ISSN 2666-979X
    ISSN (online) 2666-979X
    DOI 10.1016/j.xgen.2021.100029
    Database MEDical Literature Analysis and Retrieval System OnLINE

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