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Genetics of disease

Parental acceptability of newborn screening expansion in the genomic era: A nationwide French survey informed by the Theoretical Framework of Acceptability (SeDeN-p3)

Camille Level, Laurence Faivre, Margot Lemaitre, Dominique Salvi, Isabelle Marchetti-Waternaux, Elisabeth Cudry, Emmanuel Simon, Nicolas Bourgon, Alexandra Benachi, Nhut-Thanh Van, Camille Coppola, Christine Binquet, Christel Thauvin-Robinet, Frédéric Huet, Christine Peyron

published 15 Jun 2026

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Survival disparities and competing mortality risks in offspring of consanguineous marriages in Yemen: A 26-year retrospective cohort analysis

Naif Taleb Ali, Mansour Abdulnabia H. Mehdi, Radfan Saleh Abdullah

published 29 May 2026

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Local genetic correlations between systemic sclerosis and common cancer types

Karina Patasova, Weng Ian Che, Helga Westerlind, Lina Marcela Diaz-Gallo, Marie Holmqvist

published 27 May 2026

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ADVANTAGE: Advanced discovery of visceral analgesics by neuroimmune targets and the genetics of extreme human phenotype, a study protocol

Marco Vinicio Alban-Paccha, Nicholas Shenker, Jimena Teran-Perez, Andrew W. Horne, George G. Malliaras, Christopher Geoffrey Woods, on behalf of the ADVANTAGE Consortium

published 21 May 2026

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Multivariate genetic architecture of age-related eye disease

Luqi Gao, Qihao Wang, Chao Zhu

published 14 May 2026

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Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging data

Leo Joskowicz, Tim Buchbinder, Eldan Chodorov, Assaf Hoogi, Katherine Matos, Antonio Rivera, Dror Sharon, Eyal Banin, Jaime Levy

published 11 May 2026

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Risk prediction for cardiovascular related diseases using PRS and EHR in the Framingham Heart Study

Taegun Kim, Jaeseung Song, Jong Wha J. Joo

published 17 Apr 2026

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Polygenic Risk Scores disclosure for cardiovascular prevention: Protocol of the Personalized HeartCare (PHC) trial

Luigi Russo, Luca Proto, Sara Farina, Eleonora Pascucci, Riccardo Galarducci, Tina Pasciuto, Anna Severino, Giovanna Liuzzo, Andrea Urbani, Ivo Iavicoli, Roberta Pastorino, Stefania Boccia

published 06 Apr 2026

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Genetic variants associated with systemic inflammatory disease associate with temporomandibular symptoms with or without periodontitis

Courtney Lucas, Dylan Baxter, Kathleen Deeley, Nilesh Shah, Antonio Pugliano, Renato Silva, Ariadne Letra, Mariana Bezamat, Alejandro Almarza, Juan Taboas, Alexandre R. Vieira

published 25 Mar 2026

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A new perspective on population genetics: Deciphering the relationship between genetic variants and disease prevalence in Psoriasis

Yuanjing Zhang, Weiran Li, Wanrong Wang, Kejia Wu, Feiran Zhou, Xiaodong Zheng

published 13 Mar 2026

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Using machine learning to predict and analyze complex trait diseases: Lessons from a simple abstract model

Eden Maimon, Ori Bondi, John Moult, Ron Unger

published 23 Feb 2026

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Evidence for genetic correlation between appendix and inflammatory bowel disease: A bidirectional Mendelian randomization study

Dan Liu, Wanyue Dan, Bin Yan, Lihua Peng, Fei Pan

published 11 Feb 2026

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Genetics to Improve Outcomes in Schizophrenia (GENios): A within-case molecular genetic study protocol

Sophie E. Smart, Eilidh Fenner, Rhys Humphreys, Amanda Wells, Katherine Fender, Catherine Bresner, Giulia Trauzzi, Isabella R. Willcocks, Sophie E. Legge, Antonio F. Pardiñas, Elliott Rees, Valentina Escott-Price, Peter Holmans, Michael C. O’Donovan, Michael J. Owen, James T. R. Walters

published 05 Feb 2026

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