医学
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A real-time PCR-based noninvasive prenatal RHD screening assay optimized for population-specific RHD allelic spectra in China
作者Xiang Wei; Linzhi Jiang; Qian Zhu
作者单位1. Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China; 2. Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
Development and pilot testing of a prostate cancer polygenic risk report
作者Julia N. Griffin; Morgan E. Danowski; Haley L. Gerety; Katherine Lafferty; Marla L. Clayman; Ashley A. Antwi; Mercedes G. Bertero; Charles A. Brunette; Chris Gillespie; Louise Guentert; Niall J. Lennon; Julian Martin; Lauren S. Patel; Jason L. Vassy
作者单位1. Boston University Genetic Counseling Program, Boston, USA; 2. VA Boston Healthcare System, Boston, USA; 3. Broad Clinical Labs, Broad Institute of MIT and Harvard, Burlington, USA; 4. Center for Health Optimization and Implementation Research (CHOIR), VA Bedford Healthcare System, Bedford, USA; 5. Department of Population and Quantitative Health Sciences, UMass Chan Medical School, Worcester, USA; 6. University of Washington, Seattle, USA; 7. Harvard Medical School, Boston, USA; 8. Boston University School of Medicine, Boston, USA; 9. Mass General Brigham, Boston, USA
Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome
作者Xin Xu; Hong Xu; Songming Huang; Yikang He; Ling Zhang
作者单位1. Department of Rehabilitation, Children’s Hospital of Nanjing Medical University, Nanjing, China; 2. Nanjing Key Laboratory of Pediatrics, Children’s Hospital of Nanjing Medical University, Nanjing, China
Benchmarking sequence-based and AlphaFold-based methods for pMHC-II binding core prediction: distinct strengths and consensus approaches
作者Soobon Ko; Honglan Li; Hongeun Kim; Woong-Hee Shin; Junsu Ko; Yoonjoo Choi
作者单位1. Department of Microbiology and Immunology, Chonnam National University Medical School, Hwasun, Republic of Korea; 2. Arontier Inc., Seoul, Republic of Korea; 3. Department of Biomedical Informatics, Korea University College of Medicine, Seoul, Republic of Korea; 4. Institute for Molecular Imaging and Theranostics, Hwasun, Republic of Korea
DR.DEGMON: self-explainable deep neural network for drug-induced cell viability prediction incorporating differentially expressed genes and gene ontology
作者Wootaek Lim; Jitae Kim; Songhyeon Kim; Hyunsu Bong; Kwang-Su Park; Minji Jeon
作者单位1. Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Korea; 2. College of Pharmacy, Keimyung University, Daegu, Korea; 3. Department of Biomedical Informatics, Korea University College of Medicine, Seoul, Korea; 4. Biomedical Research Center, Korea University Anam Hospital, Seoul, Korea
Clinical and molecular characterization of TCF12 variants in an Asian pediatric cohort with craniosynostosis
作者Rongle Zhong; Lei Zheng; Qing Yan; Zhe Gao; Chunyu Zhong; Xianli Zhang; Bixia Zheng; Ling Zhang; Wei Zhou; Gang Wang
作者单位1. Department of Neurosurgery, Children’s Hospital of Nanjing Medical University, Nanjing, China; 2. Nanjing Key Laboratory of Pediatrics, Children’s Hospital of Nanjing Medical University, Nanjing, China; 3. Department of Rehabilitation, Children’s Hospital of Nanjing Medical University, Nanjing, China
Genomic determinants of fluoroquinolone resistance in Escherichia coli in Nigeria: dominance of QRDR mutations and limited contribution of PMQR in a cross-sectional study
作者Nubwa Medugu; Mabel Kamweli Aworh; Khadija Abdulraheem; Dawn M. Hull; Lyndy Harden; Siddhartha Thakur
作者单位1. Department of Medical Microbiology, Nile University of Nigeria, Abuja, Nigeria; 2. Department of Medical Microbiology, National Hospital Abuja, Abuja, Nigeria; 3. Department of Biological and Forensic Sciences, Fayetteville State University, Fayetteville, USA; 4. Department of Population Health and Pathobiology, College of Veterinary Medicine, North Carolina State University, Raleigh, USA
Familial lymphoma and genetic predisposition: an updated review
作者Laura Braun; Rossella Graffeo; Kalaruban Kapilan; Harpreet Kaur Mandhair; Manuela Rabaglio; Urban Novak
作者单位1. Department of Medical Oncology, Bern University Hospital, University of Bern, InselspitalBern, Switzerland; 2. Oncology Institute of Southern Switzerland, EOC, Bellinzona, Switzerland; 3. Department of BioMedical Research, University of Bern, Bern, Switzerland
Crosstalk mediators implicated in the Stevens-Johnson Syndrome through gene regulatory network analysis
作者Makoto Watanabe; Mayumi Ueta; Hiromi Nishigaki; Katsura Mizushima; Yuji Naito; Shigeru Kinoshita; Chie Sotozono; Jun Takayama
作者单位1. Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan; 2. Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan; 3. Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan; 4. Department of Human Immunology and Nutrition Science, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan
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