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Genomic medicine

Distinct NGS mutational landscape and prognostic implications in early-onset colorectal cancer: A dual-cohort analysis of TCGA PanCancer Atlas and MSK-IMPACT 50K

Elif Sertesen Çamöz, Osman Bilge Kaya, Hakan Erçelebi, Cengiz Karaçin, Yunus Kasım Terzi, Zerrin Yılmaz Çelik

published 01 Oct 2026

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Comparative evolutionary pharmacogenomics of human prostaglandin-endoperoxide synthase paralogs identifies population-structured coding variation and protein-contextual candidates in N-terminal leader-sequence and catalytic-channel regions

Reuben S. Maghembe

published 25 Sep 2026

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The changing landscape of Fabry disease: Impact of the inclusion of the GLA-gene in broader NGS or WES based panels on the phenotypic spectrum

Laura van Dussen, Emilie V. Albers, Saskia N. van der Crabben, Ronald H. Lekanne Deprez, Astrid S. Plomp, Mirjam Langeveld

published 16 Sep 2026

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Driver mutation impact in Chinese hepatocellular carcinoma

Ruiheng Wu, Houmin Xing, Jeffrey P. Townsend

published 24 Aug 2026

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Modelling breeding strategies against genetic defects in a vulnerable cattle breed

Ebba Gustafsson, Anna M. Johansson, Martin Johnsson

published 20 Aug 2026

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Performance of PREMM5, clinical criteria, and immunohistochemistry for MMR proteins in genetic risk assessment of Mexican patients with colorectal cancer

José Luis Rodríguez-Olivares, Dione Aguilar-y-Méndez, Tamara N. Kimball, Pamela Rivero-García, Javier Rios-Valencia, Sandra Santuario-Facio, Augusto Rojas-Martinez, Rocío Ortiz-López, Angélica Leticia Barraza-Arellano, Alejandro Aranda-Gutierrez, Jazmín Arteaga-Vazquez, Héctor De-La-Mora-Molina, Josef Herzog, Joanne M. Jeter, Jeffrey N. Weitzel, Yanin Chávarri-Guerra

published 04 Aug 2026

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Pharmacogenomic landscape in Thailand: Array-based profiling and EMR-linked medication exposure

Phongthana Pasookhush, Sophida Suta, Sureeporn Pumeiam, Pichanun Mongkolsucharitkul, Bonggochpass Pinsawas, Suphawan Ophakas, Korapat Mayurasakorn

published 03 Aug 2026

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Genetic yield of next-generation sequencing for detecting monogenic familial hypercholesterolemia in uzbek patients with coronary artery disease

Rano B. Alieva, Aleksandr B. Shek, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva

published 09 Jul 2026

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A clinical pilot study for personalized risk-based breast cancer screening utilizing a polygenic risk score

Tone Hovda, Siim Sober, Peeter Padrik, Krista Kruuv-Kao, Eli Marie Grindedal, Tone Bøe Aaman Vamre, Eline Eikeland, Solveig Hofvind, Kristine Kleivi Sahlberg

published 08 Jul 2026

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Awareness, attitudes, and barriers toward Transthyretin Amyloid Cardiomyopathy in Latin America: A questionnaire-based cross-sectional study

Cecilia Camacho-Hubner, Marcia Waddington-Cruz, María Juliana Rodríguez-González, Marcus Vinicius Simões, Juan David López-Ponce de León, Fabio Fernandes, Erika María Martínez-Carreño, Juan Pablo Costabel, Enrique A. Berrios-Bárcenas, Fabio Barroso, José Angel Cigarroa López, Rosa Ortega Reyes, Jaime Alvarez, Diego Pérez de Arenaza, Diana Buitrago, Constanza Otero, Claudenice Leite Bertoli de Souza, Juan Sebastián Molina Gómez, Guilherme Silva Julian

published 26 Jun 2026

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Benchmark of biomarker identification and prognostic modeling methods on diverse censored data

Wesley Fletcher, Samiran Sinha

published 16 Jun 2026

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A fusion-deletion genomic-event underlies poor prognosis in young patients with luminal breast cancer

Le-Wei Zheng, Yi-Ming Liu, Ke-Da Yu, Cui-Cui Liu

published 16 Jun 2026

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Cost-effectiveness of pre-emptive pharmacogenetic testing: An umbrella review

Taichi Ochi, Manon G. den Uil, Greta Piazza, Geert W. J. Frederix, Eelko Hak, Vera H. M. Deneer, Talitha L. Feenstra

published 16 Jun 2026

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