|
GENETICS
REPRODUCTION
|
Mge01-022 | Non-invasive Prenatal MT-RNR1 Pharmacogenetic Testing for the Prevention of Aminoglycoside-Induced Profound Hearing Loss |
| Quote: | We report an innovative prenatal pharmacogenetic approach based on the parallel genome-wide analysis of mitochondrial and nuclear cell-free DNA which co-exist in routine non-invasive prenatal testing NIPT sequencing data. Following analysis of 5,529 NIPT cases, we reached to 99.3 cumulative call rate with100 sensitivity and specificity for the clinically actionable variants m.1095TC, m.1494CT and m.1555AG. Since NIPT is a globally adopted first and second-tier prenatal test, our approach could revolutionize early intervention strategies for aminoglycoside-induced hearing loss and improve clinical decision-making.
|
| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.01.02.25343256v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.01.02.25343256v1.full-text |
| Search Similar: |
Brave Mojeek Startpage Dogpile Bing Googl Lycos Utub Yaho |
| Search Authors: |
Aspasia Destouni Benelote Uuskla Javier Lanillos Hindrek Teder Priit Paluoja Tuuli Metsvaht Cristina Rodriguez-Antona Andres Salumets Kaarel Krjutskov,
|
|
GENETICS
SLEEP
|
Mge01-024 | Polygenic risk scores and Mendelian randomization reveal circadian genetic contributions to idiopathic hypersomnia |
| Quote: | PRS analysis identified significant associations between IH and sleep traits such as eveningness and daytime napping, with notably large effect sizes. Importantly, MR analysis further suggested a causal role for eveningness in IH pathogenesis. These findings highlight distinct genetic subtypes within IH and reinforce the relevance of circadian misalignment in its pathophysiology.
|
| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.01.06.26343504v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.01.06.26343504v1.full-text |
| Search Similar: |
Brave Mojeek Startpage Dogpile Bing Googl Lycos Utub Yaho |
| Search Authors: |
Taku Miyagawa Mihoko Shimada Kotomi Tanida Nozomu Kotorii Takao Kato Tatayu Kotorii Yu Ariyoshi Hiroshi Hiejima Motohiro Ozone Naohisa Uchimura Azusa Ikegami Kazuhiko Kume Takashi Kanbayashi Aya Imanishi Yuichi Kamei Akiko Hida Yamato Wada Kenji Kuroda Masayuki Miyamoto Koichi Hirata Masanori Takami Naoto Yamada Masako Okawa Naoto Omata Hideaki Kondo Tohru Kodama Yuichi Inoue Kazuo Mishima Katsushi Tokunaga Makoto Honda,
|
|
BRAIN
GENETICS
PSYCHOLOGY
|
Mge01-032 | Using multi-trait polygenic scores to predict lithium responsiveness in patients with bipolar disorder |
| Quote: | Conclusions By integrating polygenic scores for multiple relevant phenotypes, predictive accuracy for lithium response improved up to nine-fold compared to single-trait methods.
|
| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.01.01.25343187v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.01.01.25343187v1.full-text |
| Search Similar: |
Brave Mojeek Startpage Dogpile Bing Googl Lycos Utub Yaho |
| Search Authors: |
Nigussie T. Sharew Scott R. Clark Simon Hartmann Sergi Papiol Urs Heilbronner Franziska Degenhardt Janice M. Fullerton Liping Hou Tatyana Shekhtman Mazda Adli Nirmala Akula Kazufumi Akiyama Raffaella Ardau Brbara Arias Fasil Tekola-Ayele Carla Gallo Roland Hasler Hlne Richard-Lepouriel Nader Perroud Lena Backlund Abesh Kumar Bhattacharjee Frank Bellivier Antonio Benabarre Susanne Bengesser Joanna M. Biernacka Armin Birner Cynthia Marie-Claire Pablo Cervantes Hsi-Chung Chen Caterina Chillotti Sven Cichon Cristiana Cruceanu Piotr M. Czerski Nina Dalkner Maria Del Zompo J. Raymond DePaulo Bruno tain Stephane Jamain Peter Falkai Andreas J. Forstner Louise Frisen Mark A. Frye Sbastien Gard Julie S. Garnham Fernando S. Goes Maria Grigoroiu-Serbanescu Andreas J. Fallgatter Sophia Stegmaier Thomas Ethofer Silvia Biere Kristiyana Petrova Ceylan Schuster Kristina Adorjan Monika Budde Maria Heilbronner Janos L. Kalman Mojtaba Oraki Kohshour Daniela Reich-Erkelenz Sabrina K. Schaupp Eva C. Schulte Fanny Senner Thomas Vogl Ion-George Anghelescu Volker Arolt Udo Dannlowski Detlef E. Dietrich Christian Figge Markus Jger Fabian U. Lang Georg Juckel Carsten Konrad Jens Reimer Max Schmau Andrea Schmitt Carsten Spitzer Martin von Hagen Jens Wiltfang Jrg Zimmermann Till F.M. Andlauer Andre Fischer Felix Bermpohl Philipp Ritter Silke Matura Anna Gryaznova Irina Falkenberg Cneyt Yildiz Tilo Kircher Julia Schmidt Marius Koch Kathrin Gade Sarah Trost Ida S. Haussleiter Martin Lambert Anja C. Rohenkohl Vivien Kraft Paul Grof Ryota Hashimoto Joanna Hauser Stefan Herms Per Hoffmann Esther Jimnez Jean-Pierre Kahn Layla Kassem Po-Hsiu Kuo Tadafumi Kato John Kelsoe Sarah Kittel-Schneider Ewa Ferensztajn-Rochowiak Barbara Knig Ichiro Kusumi Gonzalo Laje Mikael Landn Catharina Lavebratt Marion Leboyer Susan G. Leckband Alfonso Tortorella Mirko Manchia Lina Martinsson Michael J. McCarthy Susan L. McElroy Francesc Colom Vincent Millischer Marina Mitjans Francis M. Mondimore Palmiero Monteleone Caroline M. Nievergelt Markus M. Nthen Tomas Novk Claire ODonovan Norio Ozaki Andrea Pfennig Claudia Pisanu James B. Potash Andreas Reif Eva Reininghaus Guy A. Rouleau Janusz K. Rybakowski Martin Schalling Peter R. Schofield Barbara W. Schweizer Giovanni Severino Paul D. Shilling Katzutaka Shimoda Christian Simhandl Claire M. Slaney Alessio Squassina Thomas Stamm Pavla Stopkova Mario Maj Gustavo Turecki Eduard Vieta Julia Veeh Biju Viswanath Stephanie H. Witt Adam Wright Peter P. Zandi Philip B. Mitchell Michael Bauer Martin Alda Marcella Rietschel Francis J. McMahon Thomas G. Schulze Bernhard T. Baune Klaus Oliver Schubert Azmeraw T. Amare,
|