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  1. 21
    A scalable tool for analyzing genomic variants of humans using knowledge graphs and graph machine learning

    A scalable tool for analyzing genomic variants of humans using knowledge graphs and graph machine learning by Shivika Prasanna, Ajay Kumar, Deepthi Rao, Eduardo J. Simoes, Praveen Rao

    Published 2025-01-01
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  2. 22
    A Short History of the Genome-Wide Association Study: Where We Were and Where We Are Going

    A Short History of the Genome-Wide Association Study: Where We Were and Where We Are Going by Shiro Ikegawa

    Published 2012-12-01
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  3. 23
    Sideroflexin family genes were dysregulated and associated with tumor progression in prostate cancers

    Sideroflexin family genes were dysregulated and associated with tumor progression in prostate cancers by Hua Huang, Huibo Lian, Wang Liu, Benyi Li, Runzhi Zhu, Haiyan Shao

    Published 2025-02-01
    “…Human Genomics…”
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  4. 24
    Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates

    Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates by Panagiotis N. Lalagkas, Rachel D. Melamed

    Published 2024-11-01
    “…Human Genomics…”
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  5. 25
    Liver macrophage-derived exosomal miRNA-342-3p promotes liver fibrosis by inhibiting HPCAL1 in stellate cells

    Liver macrophage-derived exosomal miRNA-342-3p promotes liver fibrosis by inhibiting HPCAL1 in stellate cells by Wenshuai Li, Lirong Chen, Qi Zhou, Tiansheng Huang, Wanwei Zheng, Feifei Luo, Zhong Guang Luo, Jun Zhang, Jie Liu

    Published 2025-02-01
    “…Human Genomics…”
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  6. 26
    The interplay of sex and genotype in disease associations: a comprehensive network analysis in the UK Biobank

    The interplay of sex and genotype in disease associations: a comprehensive network analysis in the UK Biobank by Vivek Sriram, Jakob Woerner, Yong-Yeol Ahn, Dokyoon Kim

    Published 2025-01-01
    “…Human Genomics…”
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  7. 27
    High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands

    High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands by Yunpeng Wang, Gaohui Zhu, Danhua Li, Yu Pan, Rong Li, Ting Zhou, Aiping Mao, Libao Chen, Jing Zhu, Min Zhu

    Published 2025-01-01
    “…Human Genomics…”
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  8. 28
    Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing

    Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing by Jeong-Min Kim, Hye-Won Cho, Dong Mun Shin, Oc-Hee Kim, Jihyun Kim, Hyeji Lee, Gang-Hee Lee, Joon-Yong An, Misun Yang, Heui Seung Jo, Ja-Hyun Jang, Yun Sil Chang, Hyun-Young Park, Mi-Hyun Park

    Published 2025-01-01
    “…Human Genomics…”
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  9. 29
    Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece

    Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece by George P. Patrinos, Kariofyllis Karamperis, Margarita-Ioanna Koufaki, Maria Skokou, Zoe Kordou, Eirini Sparaki, Margarita Skaraki, Christina Mitropoulou

    Published 2025-02-01
    “…Human Genomics…”
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  10. 30
    Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens

    Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens by Relu Cocoș, Bogdan Ovidiu Popescu

    Published 2024-12-01
    “…Human Genomics…”
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  11. 31
    Correction: Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates

    Correction: Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates by Panagiotis N. Lalagkas, Rachel D. Melamed

    Published 2025-01-01
    “…Human Genomics…”
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  12. 32
    Genetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2

    Genetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2 by Patrizia Malaspina, Carla Jodice, Bianca Maria Ciminelli, Michela Biancolella, Vito Luigi Colona, Andrea Latini, Francesca Leonardis, Paola Rogliani, Antonio Novelli, Giuseppe Novelli, Andrea Novelletto

    Published 2025-01-01
    “…Human Genomics…”
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  13. 33
    The GeoTox Package: open-source software for connecting spatiotemporal exposure to individual and population-level risk

    The GeoTox Package: open-source software for connecting spatiotemporal exposure to individual and population-level risk by Kyle P. Messier, David M. Reif, Skylar W. Marvel

    Published 2025-01-01
    “…Human Genomics…”
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  14. 34
    Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays

    Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays by Cristina Fortuno, Inés Llinares-Burguet, Daffodil M. Canson, Miguel de la Hoya, Elena Bueno-Martínez, Lara Sanoguera-Miralles, Sonsoles Caldes, Paul A. James, Eladio A. Velasco-Sampedro, Amanda B. Spurdle

    Published 2025-01-01
    “…Human Genomics…”
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  15. 35
    Multi-omics approaches for understanding gene-environment interactions in noncommunicable diseases: techniques, translation, and equity issues

    Multi-omics approaches for understanding gene-environment interactions in noncommunicable diseases: techniques, translation, and equity issues by Robel Alemu, Nigussie T. Sharew, Yodit Y. Arsano, Muktar Ahmed, Fasil Tekola-Ayele, Tesfaye B. Mersha, Azmeraw T. Amare

    Published 2025-01-01
    “…Human Genomics…”
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  16. 36
    Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

    Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability by Hiroki Tanabe, Masami Ijiri, Kenji Takahashi, Honoka Sasagawa, Tomomi Kamanaka, Shohei Kuroda, Hiroki Sato, Takeo Sarashina, Yusuke Mizukami, Yoshio Makita, Toshikatsu Okumura

    Published 2024-03-01
    “…Human Genome Variation…”
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  17. 37
    Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study

    Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study by Mashu Futagawa, Tetsuya Okazaki, Eiji Nakata, Chika Fukano, Risa Osumi, Fumino Kato, Yusaku Urakawa, Hideki Yamamoto, Toshifumi Ozaki, Akira Hirasawa

    Published 2024-11-01
    “…Human Genome Variation…”
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  18. 38
    NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas

    NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas by Erina Tonouchi, Kei-ichi Morita, Yosuke Harazono, Kyoko Hoshino, Tetsuya Yoda

    Published 2024-05-01
    “…Human Genome Variation…”
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  19. 39
    BARD1 deletion in a patient with suspected hereditary colorectal cancer

    BARD1 deletion in a patient with suspected hereditary colorectal cancer by Nobue Takaiso, Issei Imoto, Akiyo Yoshimura, Akira Ouchi, Koji Komori, Hiroji Iwata, Yasuhiro Shimizu

    Published 2024-03-01
    “…Human Genome Variation…”
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  20. 40
    Investigating mobile element variations by statistical genetics

    Investigating mobile element variations by statistical genetics by Shohei Kojima

    Published 2024-05-01
    “…Human Genome Variation…”
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