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Human Genomics|February 23, 2024
Meta-analysis of 46,000 germline de novo mutations linked to human inherited diseaseMónica Lopes-Marques, Matthew Mort, João Carneiro, et al.
Human Genomics|January 30, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genesHuijun Lei, Jiaheng Li, Bojin Zhao, et al.
Human Genomics|April 24, 2024
Mendelian randomization and colocalization analysis reveal novel drug targets for myasthenia gravisYuzhen Ouyang, Yu Chen, Kangzhi Chen, et al.
Human Genomics|April 17, 2024
Epidemiologic association and shared genetic architecture between cataract and hearing difficulties among middle-aged and older adultsXiayin Zhang, Shan Wang, Shunming Liu, et al.
Human Genomics|April 16, 2024
Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patientsMinh Ho, Huynh-Nga Nguyen, Minh Van Hoang, et al.
Human Genomics|April 29, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes projectSarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, et al.
Human Genomics|October 29, 2023
Multidimensional fragmentomic profiling of cell-free DNA released from patient-derived organoidsJaeryuk Kim, Seung-Pyo Hong, Seyoon Lee, et al.
Human Genomics|August 28, 2023
An AI-powered patient triage platform for future viral outbreaks using COVID-19 as a disease modelGeorgia Charkoftaki, Reza Aalizadeh, Alvaro Santos-Neto, et al.
Human Genomics|September 14, 2023
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approachAinhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, et al.
Human Genomics|May 9, 2026
Exploring the prognostic role of senescence-related genes in gastric cancer through multi-omics integration and machine learningYangkun Cao, Dongjie Li, Li Bao, et al.
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