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Publications

Serum, Cell-Free, HPV-Human DNA Junction Detection and HPV Typing for Predicting and Monitoring Cervical Cancer Recurrence.

Van Arsdale A, Mescheryakova O, Gallego S, et al. Serum, Cell-Free, HPV-Human DNA Junction Detection and HPV Typing for Predicting and Monitoring Cervical Cancer Recurrence. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2024.09.16.24313343

Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.

Avila MN, Jung S, Satterstrom K, et al. Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2024.12.27.24319460

Paediatric strategy forum for medicinal product development in diffuse midline gliomas in children and adolescents ACCELERATE in collaboration with the European Medicines Agency with participation of the Food and Drug Administration.

Pearson AD, Mueller S, Filbin MG, et al. Paediatric strategy forum for medicinal product development in diffuse midline gliomas in children and adolescents ACCELERATE in collaboration with the European Medicines Agency with participation of the Food and Drug Administration. European journal of cancer (Oxford, England : 1990). 2025;217:115230. doi:10.1016/j.ejca.2025.115230

Transposon mediated functional genomic screening for BRAF inhibitor resistance reveals convergent Hippo and MAPK pathway activation events.

Chen L, Pruteanu-Malinici I, Dastur A, et al. Transposon mediated functional genomic screening for BRAF inhibitor resistance reveals convergent Hippo and MAPK pathway activation events. Scientific reports. 2025;15(1):3048. doi:10.1038/s41598-025-86694-5

Integrative proteogenomic analysis identifies COL6A3-derived endotrophin as a mediator of the effect of obesity on coronary artery disease.

Yoshiji S, Lu T, Butler-Laporte G, et al. Integrative proteogenomic analysis identifies COL6A3-derived endotrophin as a mediator of the effect of obesity on coronary artery disease. Nature genetics. 2025. doi:10.1038/s41588-024-02052-7

Genome-wide association analysis of composite sleep health scores in 413,904 individuals.

Goodman MO, Faquih T, Paz V, et al. Genome-wide association analysis of composite sleep health scores in 413,904 individuals. Communications biology. 2025;8(1):115. doi:10.1038/s42003-025-07514-0

Uniform volumetric single-cell processing for organ-scale molecular phenotyping.

Yun DH, Park YG, Cho JH, et al. Uniform volumetric single-cell processing for organ-scale molecular phenotyping. Nature biotechnology. 2025. doi:10.1038/s41587-024-02533-4

Missing Regulation Between Genetic Association and Transcriptional Abundance for Hypercholesterolemia Genes.

Hakim A, Connally NJ, Schnitzler GR, et al. Missing Regulation Between Genetic Association and Transcriptional Abundance for Hypercholesterolemia Genes. Genes. 2025;16(1). doi:10.3390/genes16010084

Rewiring cancer: 3D genome determinants of cancer hallmarks.

Amodeo ME, Eyler CE, Johnstone SE. Rewiring cancer: 3D genome determinants of cancer hallmarks. Current opinion in genetics & development. 2025;91:102307. doi:10.1016/j.gde.2024.102307

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.

Negi S, Stenton SL, Berger SI, et al. Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection. American journal of human genetics. 2025. doi:10.1016/j.ajhg.2025.01.002