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Human genetics

Genome wide association study of clinical duration and age at onset of sporadic CJD

Holger Hummerich, Helen Speedy, Tracy Campbell, Lee Darwent, Elizabeth Hill, Steven Collins, Christiane Stehmann, Gabor G. Kovacs, Michael D. Geschwind, Karl Frontzek, Herbert Budka, Ellen Gelpi, Adriano Aguzzi, Sven J. van der Lee, Cornelia M. van Duijn, Pawel P. Liberski, Miguel Calero, Pascual Sanchez-Juan, Elodie Bouaziz-Amar, Jean-Louis Laplanche, Stéphane Haïk, Jean-Phillipe Brandel, Angela Mammana, Sabina Capellari, Anna Poleggi, Anna Ladogana, Maurizio Pocchiari, Saima Zafar, Stephanie Booth, Gerard H. Jansen, Aušrinė Areškevičiūtė, Eva Løbner Lund, Katie Glisic, Piero Parchi, Peter Hermann, Inga Zerr, Brian S. Appleby, Jiri Safar, Pierluigi Gambetti, John Collinge, Simon Mead

published 26 Jul 2024

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Variant calling and genotyping accuracy of ddRAD-seq: Comparison with 20X WGS in layers

Mathilde Doublet, Fabien Degalez, Sandrine Lagarrigue, Laetitia Lagoutte, Elise Gueret, Sophie Allais, Frédéric Lecerf

published 26 Jul 2024

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Pangenome and genomic signatures linked to the dominance of the lineage-4 of Mycobacterium tuberculosis isolated from extrapulmonary tuberculosis patients in western Ethiopia

Basha Chekesa, Harinder Singh, Norberto Gonzalez-Juarbe, Sanjay Vashee, Rosana Wiscovitch-Russo, Christopher L. Dupont, Musse Girma, Oudessa Kerro, Balako Gumi, Gobena Ameni

published 25 Jul 2024

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Roll-out of an educational workshop to improve knowledge and self-confidence of healthcare professionals engaged in mainstreaming of breast cancer genetics

Valerie Jenkins, Ruth Habibi, Virginia Hall, Pauline Leonard, Anneliese Lawn, Jay Naik, Rachel Papps-Williams, Lesley Fallowfield

published 19 Jul 2024

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Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia

Osama Y. Muthaffar, Noura W. Alazhary, Anas S. Alyazidi, Mohammed A. Alsubaie, Sarah Y. Bahowarth, Nour B. Odeh, Ahmed K. Bamaga

published 18 Jul 2024

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Association of birth weight, childhood obesity, and age at menarche with the risk of ovarian dysfunction: A mendelian randomization study

Chunxiao Dang, Jianjuan Li, Xiao Yu, Jinxing Liu, Pengfei Liu, Xiaoling Yang

published 18 Jul 2024

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Trans-ancestry analysis in over 799,000 individuals yields new insights into the genetic etiology of colorectal cancer

Changlong Yang, Zhenglin Chang, Youguo Dai, Jinzhao Mo, Qitai Zhang, Mingming Zhu, Likun Luan, Jinhu Zhang, Baoqing Sun, Junyi Jia

published 18 Jul 2024

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An assessment of the value of deep neural networks in genetic risk prediction for surgically relevant outcomes

Mathias Aagaard Christensen, Arnór Sigurdsson, Alexander Bonde, Simon Rasmussen, Sisse R. Ostrowski, Mads Nielsen, Martin Sillesen

published 15 Jul 2024

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Impact of negative emotions on upper gastrointestinal diseases: A Mendel randomization study

Nan Gao, Zhun Yu, Yu Fan, Xue Jiang, Ting Hu

published 12 Jul 2024

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The polygenic implication of clopidogrel responsiveness: Insights from platelet reactivity analysis and next-generation sequencing

Omar Echeverría, Mariana Angulo-Aguado, Ricardo Vela, Carlos Calderón-Ospina, Katherine Parra, Nora Contreras, Adrien Morel, Rodrigo Cabrera, Carlos Restrepo, Carolina Ramírez-Santana, Oscar Ortega-Recalde, Manuel Eduardo Rojas-Quintana, Luisa Murcia, Cristian Camilo Gaviria-Sabogal, Nattaly Valero, Dora Janeth Fonseca-Mendoza

published 11 Jul 2024

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Betaine and I-LG may have a predictive value for ATB: A causal study in a large European population

Xiaomin Xian, Li Li, Jing Ye, Wenxiu Mo, Dabin Liang, Minying Huang, Yue Chang, Zhezhe Cui

published 05 Jul 2024

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Literary tastes are as heritable as other human phenotypes: Evidence from twins’ library borrowing

Mads M. Jæger, Stine Møllegaard, Ea H. Blaabæk

published 05 Jul 2024

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Mendelian randomization analyses clarify the effects of height on cardiovascular diseases

Daniel Hui, Eric Sanford, Kimberly Lorenz, Scott M. Damrauer, Themistocles L. Assimes, Christopher S. Thom, Benjamin F. Voight

published 03 Jul 2024

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