Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants

Autor: Ulrik Kristoffer Stoltze, Christian Munch Hagen, Thomas van Overeem Hansen, Anna Byrjalsen, Anne-Marie Gerdes, Victor Yakimov, Simon Rasmussen, Marie Bækvad-Hansen, David Michael Hougaard, Kjeld Schmiegelow, Henrik Hjalgrim, Karin Wadt, Jonas Bybjerg-Grauholm

Publikováno v: Genome Medicine, Vol 15, Iss 1, Pp 1-12 (2023)

Abstract Background Next-generation sequencing (NGS) based population screening holds great promise for disease prevention and earlier diagnosis, but the costs associated with screening millions of humans remain prohibitive. New methods for populatio

Externí odkaz: https://doaj.org/article/324c1cafcb904cdb8f21fd764f4b0800

Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

Autor: Valgerdur Steinthorsdottir, Ralph McGinnis, Nicholas O. Williams, Lilja Stefansdottir, Gudmar Thorleifsson, Scott Shooter, João Fadista, Jon K. Sigurdsson, Kirsi M. Auro, Galina Berezina, Maria-Carolina Borges, Suzannah Bumpstead, Jonas Bybjerg-Grauholm, Irina Colgiu, Vivien A. Dolby, Frank Dudbridge, Stephanie M. Engel, Christopher S. Franklin, Michael L. Frigge, Yr Frisbaek, Reynir T. Geirsson, Frank Geller, Solveig Gretarsdottir, Daniel F. Gudbjartsson, Quaker Harmon, David Michael Hougaard, Tatyana Hegay, Anna Helgadottir, Sigrun Hjartardottir, Tiina Jääskeläinen, Hrefna Johannsdottir, Ingileif Jonsdottir, Thorhildur Juliusdottir, Noor Kalsheker, Abdumadjit Kasimov, John P. Kemp, Katja Kivinen, Kari Klungsøyr, Wai K. Lee, Mads Melbye, Zosia Miedzybrodska, Ashley Moffett, Dilbar Najmutdinova, Firuza Nishanova, Thorunn Olafsdottir, Markus Perola, Fiona Broughton Pipkin, Lucilla Poston, Gordon Prescott, Saedis Saevarsdottir, Damilya Salimbayeva, Paula Juliet Scaife, Line Skotte, Eleonora Staines-Urias, Olafur A. Stefansson, Karina Meden Sørensen, Liv Cecilie Vestrheim Thomsen, Vinicius Tragante, Lill Trogstad, Nigel A. B. Simpson, FINNPEC Consortium, GOPEC Consortium, Tamara Aripova, Juan P. Casas, Anna F. Dominiczak, James J. Walker, Unnur Thorsteinsdottir, Ann-Charlotte Iversen, Bjarke Feenstra, Deborah A. Lawlor, Heather Allison Boyd, Per Magnus, Hannele Laivuori, Nodira Zakhidova, Gulnara Svyatova, Kari Stefansson, Linda Morgan

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)

Studies to identify maternal variants associated with preeclampsia have been limited by sample size. Here, the authors meta-analyze eight GWAS of 9,515 preeclamptic women, identifying five variants associated with preeclampsia and showing that geneti

Externí odkaz: https://doaj.org/article/54b589a97a1246bc8db4f581846322e3

The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder

Autor: Frank R. Wendt, Miguel Garcia-Argibay, Brenda Cabrera-Mendoza, Unnur A. Valdimarsdóttir, Joel Gelernter, Murray B. Stein, Michel G. Nivard, Adam X. Maihofer, Caroline M. Nievergelt, Henrik Larsson, Manuel Mattheisen, Renato Polimanti, Sandra M. Meier, Karmel W. Choi, Jonathan R.I. Coleman, Nikolaos P. Daskalakis, Christy A. Denckla, Elizabeth Ketema, Rajendra A. Morey, Andrew Ratanatharathorn, Katy Torres, Aliza P. Wingo, Clement C. Zai, Allison E. Aiello, Lynn M. Almli, Ananda B. Amstadter, Soren B. Andersen, Ole A. Andreassen, Paul A. Arbisi, Allison E. Ashley-Koch, S. Bryn Austin, Esmina Avdibegovic, Anders D. Borglum, Dragan Babic, Marie Bækvad-Hansen, Dewleen G. Baker, Jean C. Beckham, Laura J. Bierut, Jonathan I. Bisson, Marco P. Boks, Elizabeth A. Bolger, Bekh Bradley, Meghan Brashear, Gerome Breen, Richard A. Bryant, Angela C. Bustamante, Jonas Bybjerg-Grauholm, Joseph R. Calabrese, Jose Miguel Caldas-de-Almeida, Chia-Yen Chen, Anders M. Dale, Shareefa Dalvie, Jürgen Deckert, Douglas L. Delahanty, Michelle F. Dennis, Seth G. Disner, Katharina Domschke, Laramie E. Duncan, Alma Dzubur Kulenovic, Christopher R. Erbes, Alexandra Evans, Lindsay A. Farrer, Norah C. Feeny, Janine D. Flory, David Forbes, Carol E. Franz, Sandro Galea, Melanie E. Garrett, Aarti Gautam, Bizu Gelaye, Elbert Geuze, Charles F. Gillespie, Aferdita Goci Uka, Scott D. Gordon, Guia Guffanti, Rasha Hammamieh, Michael A. Hauser, Andrew C. Heath, Sian M.J. Hemmings, David Michael Hougaard, Miro Jakovljevic, Marti Jett, Eric Otto Johnson, Ian Jones, Tanja Jovanovic, Xue-Jun Qin, Karen-Inge Karstoft, Milissa L. Kaufman, Ronald C. Kessler, Alaptagin Khan, Nathan A. Kimbrel, Anthony P. King, Nastassja Koen, Henry R. Kranzler, William S. Kremen, Bruce R. Lawford, Lauren A.M. Lebois, Catrin Lewis, Israel Liberzon, Sarah D. Linnstaedt, Mark W. Logue, Adriana Lori, Bozo Lugonja, Jurjen J. Luykx, Michael J. Lyons, Jessica L. Maples-Keller, Charles Marmar, Nicholas G. Martin, Douglas Maurer, Matig R. Mavissakalian, Alexander McFarlane, Regina E. McGlinchey, Katie A. McLaughlin, Samuel A. McLean, Divya Mehta, Rebecca Mellor, Vasiliki Michopoulos, William Milberg, Mark W. Miller, Charles Phillip Morris, Ole Mors, Preben Bo Mortensen, Elliot C. Nelson, Merete Nordentoft, Sonya B. Norman, Meaghan O’Donnell, Holly K. Orcutt, Matthew S. Panizzon, Edward S. Peters, Alan L. Peterson, Matthew Peverill, Robert H. Pietrzak, Melissa A. Polusny, John P. Rice, Victoria B. Risbrough, Andrea L. Roberts, Alex O. Rothbaum, Barbara O. Rothbaum, Peter Roy-Byrne, Kenneth J. Ruggiero, Ariane Rung, Bart P.F. Rutten, Nancy L. Saccone, Sixto E. Sanchez, Dick Schijven, Soraya Seedat, Antonia V. Seligowski, Julia S. Seng, Christina M. Sheerin, Derrick Silove, Alicia K. Smith, Jordan W. Smoller, Scott R. Sponheim, Dan J. Stein, Jennifer S. Stevens, Martin H. Teicher, Wesley K. Thompson, Edward Trapido, Monica Uddin, Robert J. Ursano, Leigh Luella van den Heuvel, Miranda Van Hooff, Eric Vermetten, Christiaan Vinkers, Joanne Voisey, Yunpeng Wang, Zhewu Wang, Thomas Werge, Michelle A. Williams, Douglas E. Williamson, Sherry Winternitz, Christiane Wolf, Erika J. Wolf, Rachel Yehuda, Keith A. Young, Ross McD. Young, Hongyu Zhao, Lori A. Zoellner, Magali Haas, Heather Lasseter, Allison C. Provost, Rany M. Salem, Jonathan Sebat, Richard Shaffer, Tianying Wu, Stephan Ripke, Mark J. Daly, Kerry J. Ressler, Karestan C. Koenen

Publikováno v: Biological psychiatry, 93(4), 362-369. Elsevier USA
Wendt, F R, Garcia-Argibay, M, Cabrera-Mendoza, B, Valdimarsdóttir, U A, Gelernter, J, Stein, M B, Nivard, M G, Maihofer, A X, Nievergelt, C M, Larsson, H, Mattheisen, M, Polimanti, R, Meier, S M, Post-Traumatic Stress Disorder Working Group of the Psychiatric Genomics Consortium & Mortensen, P B 2023, ' The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder : A Two-Sample Mendelian Randomization and Population-Based Sibling Comparison Study ', Biological Psychiatry, vol. 93, no. 4, pp. 362-369 . https://doi.org/10.1016/j.biopsych.2022.08.012
Post-Traumatic Stress Disorder Working Group of the Psychiatric Genomics Consortium 2023, ' The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder : A Two-Sample Mendelian Randomization and Population-Based Sibling Comparison Study ', Biological Psychiatry, vol. 93, no. 4, pp. 362-369 . https://doi.org/10.1016/j.biopsych.2022.08.012
Wendt, F R, Garcia-Argibay, M, Cabrera-Mendoza, B, Nivard, M G, Polimanti, R, Mattheisen, M, Meier, S M & Post-Traumatic Stress Disorder Working Group of the Psychiatric Genomics Consortium 2023, ' The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder : A Two-Sample Mendelian Randomization and Population-Based Sibling Comparison Study ', Biological psychiatry, vol. 93, no. 4, pp. 362-369 . https://doi.org/10.1016/j.biopsych.2022.08.012
Biological Psychiatry, 93(4), 362-369. Elsevier USA

Background: Attention-deficit/hyperactivity disorder (ADHD) and posttraumatic stress disorder (PTSD) are associated, but it is unclear if this is a causal relationship or confounding. We used genetic analyses and sibling comparisons to clarify the di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bb06b6af7206f9c93a5adf8c62d986d
https://doi.org/10.1016/j.biopsych.2022.08.012

Implementation of SCID Screening in Denmark

Autor: Marie Bækvad-Hansen, Dea Adamsen, Jonas Bybjerg-Grauholm, David Michael Hougaard

Publikováno v: International Journal of Neonatal Screening, Vol 7, Iss 3, p 54 (2021)

Screening for SCID was added to the Danish Neonatal Screening Program in February 2020. The screening uses a RealtimePCR kit and we here present the results and experiences with the validation of the kit and the first 10 months of screening.

Externí odkaz: https://doaj.org/article/30907fc598e8469a861268c799e20934

Genetic liability to posttraumatic stress disorder and its association with postpartum depression

Autor: Kathrine Bang Madsen, Xiaoqin Liu, Clara Albiñana, Bjarni Jóhann Vilhjálmsson, Esben Agerbo, Preben Bo Mortensen, David Michael Hougaard, Merete Nordentoft, Thomas Werge, Ole Mors, Anders D. Børglum, Trine Munk-Olsen

Publikováno v: Bang Madsen, K, Liu, X, Albiñana, C, Jóhann Vilhjálmsson, B, Agerbo, E, Mortensen, P B, Hougaard, D M, Nordentoft, M, Werge, T, Mors, O, Børglum, A D & Munk-Olsen, T 2022, ' Genetic liability to posttraumatic stress disorder and its association with postpartum depression ', Psychological Medicine, pp. 1-8 . https://doi.org/10.1017/S0033291722002045

Background Childbirth may be a traumatic experience and vulnerability to posttraumatic stress disorder (PTSD) may increase the risk of postpartum depression (PPD). We investigated whether genetic vulnerability to PTSD as measured by polygenic score (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74efa43657923c8819450336cd5a946f
https://doi.org/10.1017/s0033291722002045