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Human genetics

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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HIV-1 genetic diversity and reverse transcriptase resistance mutations in Benin before dolutegravir era, West Africa

Edmond Tchiakpe, René Kpemahouton Keke, Patricia Recordon-Pinson, Abou Abdallah Malick Diouara, Marie-Line Andreola, Moussa Bachabi, Aldric Afangnihoun, Eric Gbaguidi, Sophia Osawe, Almoustapha Issiaka Maiga, Halimatou Diop-Ndiaye, Coumba Touré-Kane, Akadiri Yessoufou

published 21 May 2026

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Genetic variants in the leptin-melanocortin pathway and their joint effects with physical activity and sleep duration on risk of childhood obesity

Xiaotong Liang, Shun Pan, Jiting Ji, Yuying Deng, Miao Chen, Ziwei Huang, Jiaru Deng, Min Chen, Tiantian Xiong, Jianping Liang, Li Liu

published 15 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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The impact of uncertainty on disclosure of prenatal exome sequencing results: A vignette study among medical students

Jasmijn E. Klapwijk, Vyne Van der Schoot, Marike G. Polak, Stina Lou, Ida Vogel, Iris M. Jansen-Bakkeren, Karin E. M. Diderich, Katinka Dijkstra, Sam R. Riedijk

published 14 May 2026

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Collection of autologous CD34+ hematopoietic progenitor cells (HPC) in multiple myeloma: CD34 + cell collection yield in relation to molecular subtype, karyotype, and FISH results

Anwar Rjoop, Ivette Perez, Daoud O. Al Aruri, Majd M. AlBarakat, Frits van Rhee, Gina Drobena

published 12 May 2026

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WGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand

Worrawit Wanitsuwan, Kanet Kanjanapradit, Supakool Jearanai, Yuthasak Suphasynth, Pongsatorn Supaattagorn, Sukanya Vijasika, Surasak Wanram, Chumpol Ngamphiw, Vorthunju Nakhonsri, Sissades Tongsima, Palakorn Satsue, Natnaree Sangkeaw, Sukanya Horpaopan

published 11 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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Targeted analysis of KRAS and CREBBP mutations uncovers a potential population-specific signature in thai patients with liver fluke-associated cholangiocarcinoma

Rehab Osman Taha, Wanna Chaijaroenkul, Papichaya Phompradit, Kesara Na-Bangchang

published 08 May 2026

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Genetic variants and polygenic risk scores associated with paroxysmal atrial fibrillation in the Japanese population

Megumi Shiomi, Yuki Nagata, Takeaki Sudo, Kentaro Takahashi, Chihiro Higuchi, Kensuke Ihara, Ken Asada, Yasuaki Tanaka, Yasuteru Yamauchi, Takeshi Sasaki, Hitoshi Hachiya, Yasushi Imai, Hideo Fujita, Tetsuo Sasano, Tetsushi Furukawa, Toshihiro Tanaka

published 04 May 2026

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Single-cell transcriptomics of bronchoalveolar lavage reveals divergent macrophage subpopulations and trajectories in interstitial lung disease

Lai-Ying Zhang, Peter C. Allen, Viviana P. Lutzky, Simon H. Apte, Penny L. Groves, Maxine E. Tan, Tharushi De Silva, Eleanor R. Spenceley, Rachael A. McCloy, Quan H. Nguyen, Joseph E. Powell, Daniel C. Chambers, Brendan J. O’Sullivan

published 29 Apr 2026

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Ten-year natural history of visual function in Japanese patients with Leber hereditary optic neuropathy: A retrospective cohort study

Yasuyuki Takai, Akiko Yamagami, Mayumi Iwasa, Kenji Inoue, Ryoma Yasumoto, Hitoshi Ishikawa, Masato Wakakura

published 28 Apr 2026

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Genetic testing in individuals with extreme HDL-C levels: Diagnostic yield and clinical implications from the Tromsø Study

Åsa Schawlann Ølnes, Marianne Teigen, Thea Bismo Strøm, Erik Kristoffer Arnesen, Antoine Rimbert, Anne Elise Eggen, Katrine Bjune

published 20 Apr 2026

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