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Human Genomics|September 10, 2024
AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genesRahaf M Ahmad, Bassam R Ali, Fatma Al-Jasmi, et al.
Human Genomics|September 7, 2024
Multi-regional genomic and transcriptomic characterization of a melanoma-associated oral cavity cancer provide evidence for CASP8 alteration-mediated field cancerizationShouvik Chakravarty, Arnab Ghosh, Chitrarpita Das, et al.
Human Genomics|June 2, 2023
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia casesAlejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin, et al.
Human Genomics|August 31, 2025
A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature reviewDongye He, Yanan Luo, Shuoshuo Wei, et al.
Human Genomics|November 23, 2024
SCAN: a nanopore-based, cost effective decision-supporting tool for mass screening of aneuploidiesAnne Kristine Schack, M Carmen Garrido-Navas, David Galevski, et al.
Human Genomics|October 19, 2024
Computational approaches to investigate the relationship between periodontitis and cardiovascular diseases for precision medicineSophia Duenas, Zachary McGee, Ishani Mhatre, et al.
Human Genomics|May 13, 2026
Transcriptome and plasma proteome analyses identify susceptibility genes and proteins for alcohol-related hepatocellular carcinomaZhishuang Li, Menghan Liu, Jiacheng Li, et al.
Human Genomics|May 11, 2026
Severity-dependent risk of chromosomal abnormalities in fetuses with short long bones: a 10-year cohort studyYanlin Huang, Hongke Ding, Jian Lu, et al.
Human Genomics|May 7, 2026
Integrating single-cell multi-omics and machine learning to reveal triaptosis heterogeneity in clear cell renal cell carcinomaHaojie Dai, Renjun Lu, Mingcong Zhang, et al.
Human Genomics|May 15, 2026
Broad germline variant spectrum revealed by whole-exome sequencing in an underrepresented Latin American population with hereditary breast cancerSarai Morales-González, Ricardo Fernández-Ramires, Hugo Carlos Bolzon Gonzalez, et al.
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