Peter Robinson

2 months ago | mdpi.com | Tiago Cousseau |Peter Robinson |Shawn Ryan |Jayne O’Shea

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Sep 11, 2024 | digitalcommons.library.tmc.edu | Jens Arne Hansen |Abhinav R. Jain |Peter Robinson |Philip Nenov

AbstractCell level functions underlie tissue and organ physiology. Gene expression patterns offer extensive views of the pathways and processes within and between cells. Single cell transcriptomics provides detailed information on gene expression within cells, cell types, subtypes and their relative proportions in organs. Functional pathways can be scalably connected to physiological functions at the cell and organ levels.

Aug 21, 2024 | nature.com | Emanuele Cavalleri |Jessica Gliozzo |Tiffany J. Callahan |Peter Robinson |Elena Casiraghi

AbstractThe “RNA world” represents a novel frontier for the study of fundamental biological processes and human diseases and is paving the way for the development of new drugs tailored to each patient’s biomolecular characteristics.

Apr 10, 2024 | nature.com | Tiffany J. Callahan |Sanya B. Taneja |Elena Casiraghi |Jonathan Silverstein |Charles Tapley Hoyt |Deepak R. Unni | +7 more

AbstractTranslational research requires data at multiple scales of biological organization. Advancements in sequencing and multi-omics technologies have increased the availability of these data, but researchers face significant integration challenges. Knowledge graphs (KGs) are used to model complex phenomena, and methods exist to construct them automatically. However, tackling complex biomedical integration problems requires flexibility in the way knowledge is modeled.

Nov 5, 2023 | nature.com | Kornelia Ellwanger |Peter Robinson |Holm Graessner |Sergi Beltran |David Lagorce |Caterina Lucano

AbstractRare diseases (RD) have a prevalence of not more than 1/2000 persons in the European population, and are characterised by the difficulty experienced in obtaining a correct and timely diagnosis. According to Orphanet, 72.5% of RD have a genetic origin although 35% of them do not yet have an identified causative gene. A significant proportion of patients suspected to have a genetic RD receive an inconclusive exome/genome sequencing.