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Human genetics

Multi-locus GWAS analysis identifies genomic regions associated with resistance to ergot (Claviceps africana) in sorghum

Dejene Kebede, Patrick Rubaihayo, Geoffrey Tusiime, Arfang Badji, Thomas Odong, Mildred Ochwo-Ssemakula, Richard Edema, Paul Gibson, Isaac Onziga Dramadri

published 23 Jun 2025

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Genomic profiling in hidradenitis suppurativa: InterOmics pipeline for DNA-RNA sequencing highlights HLA variants, keratin-associated mutations and extracellular matrix alterations as contributing factors to HS pathogenesis

Lucas André Cavalcanti Brandão, Ronald Rodrigues de Moura, Bruno Rodrigo Assunção, Cecilia Del Vecchio, Adamo Pio d’Adamo, Gudrun Ratzinger, Barbara Böckle, Nina Frischhut, Wolfram Jaschke, Matthias Schmuth, Muhammad Suleman, Angelo Valerio Marzano, Chiara Moltrasio, Paola Maura Tricarico, Sergio Crovella

published 20 Jun 2025

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Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam

Siti Nur Idayu Matusin, Nuramalina Mumin, Hazirah Zainal Abidin, Fatin Nurizzati Mohd Jaya, Zen Huat Lu, Mas Rina Wati Haji Abdul Hamid

published 18 Jun 2025

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Impact of IGFBP-3 A-202C genetic variant on breast cancer susceptibility and serum biomarkers (IGFBP-3 and IGF-1) in Palestinian women

Heba Mohammed Arafat, Tengku Ahmad Damitri Al-Astani, Noorazliyana Shafii, Rosediani Muhamad, Ohood Mohammed Shamallakh, Ihab Naser, Nahed Al Laham, Alaa Siddig

published 10 Jun 2025

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Leveraging molecular-QTL co-association to predict novel disease-associated genetic loci using a graph convolutional neural network

Julian Ng-Kee-Kwong, Andrew D. Bretherick

published 10 Jun 2025

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Genetic analysis and functional assessment of a TGFBR2 variant in micrognathia and cleft palate

JES-Rite Michaels, Paul P. R. Iyyanar, Ammar Husami, Andrew M. Vontell, Samantha A. Brugmann, Rolf W. Stottmann

published 09 Jun 2025

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Aldo-keto reductase family 1 member C3 (AKR1C3) gene polymorphism (rs12529) is associated with breast cancer in Bangladeshi population: A case-control study and computational investigation

Md. Akeruzzaman Shaon, Farzana Ansari, Zimam Mahmud, Sonia Tamanna, Md. Nazid Bin Ibrahim, Nazia Fairooz Alam, Md. Naiem Hossain, Md. Zakir Hossain Howlader

published 09 Jun 2025

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FM3VCF: A software library for accelerating the loading of large VCF files in genotype data analyses

Zhen Zuo, Mingliang Li, Qi Li, Zhuo Li, Defu Liu, Guanshi Ye, You Tang

published 04 Jun 2025

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Phenome-wide association study and functional annotation of hemoglobin A1c-associated variants in African populations

Chisom Soremekun, Oyesola Ojewunmi, Amarachukwu Nwagbata, Homa Bazireh, Sapna Sharma, Daudi Jjingo, David Patrick Kateete, Oyekanmi Nash, Harald Grallert, Chiara Batini, Annette Peters, Segun Fatumo

published 30 May 2025

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Identification of novel drug targets through integrative PWAS of brain and plasma proteins with Ulcerative Colitis GWAS

Ningning Liu, Yi Hou, Miao Yu, Gaihong Liu, Yingxue Xu, Qiang Jiang, Dongli Wang, Lianzhu Wang, Yujie Zhao

published 30 May 2025

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Identifying genes and traits associated with pre-eclampsia using summary statistics

Wenyan Zhu, Qi Wang, Min Chen

published 30 May 2025

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SNP associations in the L-citrulline metabolic pathway and vascular aging in the Japanese population

Dai Nogimura, Kazuki Moriyasu, Sachiko Ishida, Masakazu Kohda, Takayuki Yazawa, Masahiko Morita

published 29 May 2025

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Deep-embedded clustering by relevant scales and genome-wide association study in autism

Fumihiko Ueno, Ippei Takahashi, Hisashi Ohseto, Tomomi Onuma, Akira Narita, Taku Obara, Mami Ishikuro, Keiko Murakami, Aoi Noda, Fumiko Matsuzaki, Hirohito Metoki, Gen Tamiya, Shigeo Kure, Shinichi Kuriyama

published 29 May 2025

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