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Publications

Analysis of variants induced by combined ex vivo irradiation and in vivo tumorigenesis suggests a role for the ZNF831 p.R1393Q mutation in cutaneous melanoma development.

Usoltsev D, Njauw CN, Ji Z, et al. Analysis of variants induced by combined ex vivo irradiation and in vivo tumorigenesis suggests a role for the ZNF831 p.R1393Q mutation in cutaneous melanoma development. The Journal of investigative dermatology. 2024. doi:10.1016/j.jid.2024.08.042

Building a FAIR data ecosystem for incorporating single-cell transcriptomics data into agricultural genome to phenome research.

Kapoor M, Ventura ES, Walsh A, et al. Building a FAIR data ecosystem for incorporating single-cell transcriptomics data into agricultural genome to phenome research. Frontiers in genetics. 2024;15:1460351. doi:10.3389/fgene.2024.1460351

Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors.

Bazua-Valenti S, Brown MR, Zavras J, et al. Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors. The Journal of clinical investigation. 2024;134(24). doi:10.1172/JCI180347

De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.

Allington G, Mehta NH, Dennis E, et al. De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly. Brain : a journal of neurology. 2024. doi:10.1093/brain/awae395

DLBclass: A Probabilistic Molecular Classifier to Guide Clinical Investigation and Practice in DLBCL.

Chapuy B, Wood TR, Stewart C, et al. DLBclass: A Probabilistic Molecular Classifier to Guide Clinical Investigation and Practice in DLBCL. Blood. 2024. doi:10.1182/blood.2024025652

Associations between phenotypes of childhood and adolescent obesity and incident hypertension in young adulthood.

St Fleur RG, Tanofsky-Kraff M, Yanovski JA, et al. Associations between phenotypes of childhood and adolescent obesity and incident hypertension in young adulthood. International journal of obesity (2005). 2024. doi:10.1038/s41366-024-01700-6

Author Correction: Opportunities and challenges of single-cell and spatially resolved genomics methods for neuroscience discovery.

Bonev B, Castelo-Branco G, Chen F, et al. Author Correction: Opportunities and challenges of single-cell and spatially resolved genomics methods for neuroscience discovery. Nature neuroscience. 2024. doi:10.1038/s41593-024-01858-2

QClus: a droplet filtering algorithm for enhanced snRNA-seq data quality in challenging samples.

Schmauch E, Ojanen J, Galani K, et al. QClus: a droplet filtering algorithm for enhanced snRNA-seq data quality in challenging samples. Nucleic acids research. 2024. doi:10.1093/nar/gkae1145

Polyphonia: detecting inter-sample contamination in viral genomic sequencing data.

Krasilnikova LA, Tomkins-Tinch C, Gayton A, et al. Polyphonia: detecting inter-sample contamination in viral genomic sequencing data. Bioinformatics (Oxford, England). 2024. doi:10.1093/bioinformatics/btae698

Polyphonia: detecting inter-sample contamination in viral genomic sequencing data.

Krasilnikova LA, Tomkins-Tinch C, Gayton A, et al. Polyphonia: detecting inter-sample contamination in viral genomic sequencing data. Bioinformatics (Oxford, England). 2024. doi:10.1093/bioinformatics/btae698