Rosenquist R

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Delgado-Vega AM, Cederroth H, Taylan F, ..., Cederroth M, Nordgren A

Nat. Genet. 56 (11) 2287-2294 [2024-11-00; online 2024-10-22]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Gothenburg [Service] Clinical Genomics Stockholm [Service] Clinical Genomics Uppsala [Collaborative] NGI Long read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia.

Hägerstrand D, Oder B, Cortese D, ..., Sutton LA, Rosenquist R

Leukemia 38 (11) 2429-2442 [2024-11-00; online 2024-09-11]

Bioinformatics Support for Computational Resources [Service] Global Proteomics and Proteogenomics [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Smart variant filtering - A blueprint solution for massively parallel sequencing-based variant analysis.

Brahimllari O, Eloranta S, Georgii-Hemming P, ..., Wästerlid T, Boman M

Health Informatics J 30 (4) 14604582241290725 [2024-10-12; online 2024-10-12]

Clinical Genomics Stockholm [Collaborative]

Micro-costing of genetic diagnostics in acute leukemia in Sweden: from standard-of-care to whole-genome sequencing.

Thangavelu T, Wirta V, Orsmark-Pietras C, ..., Rosenquist R, Levin LÅ

J Med Econ 27 (1) 1053-1060 [2024-08-08; online 2024-08-08]

Clinical Genomics Lund [Service] Clinical Genomics Stockholm [Service] Clinical Genomics Uppsala [Collaborative]

Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer.

Wadensten E, Wessman S, Abel F, ..., Gisselsson D, Genomic Medicine Sweden Childhood Cancer Working Group

JCO Precision Oncology 7 (-) e2300039 [2023-06-00; online 2023-06-29]

Clinical Genomics Stockholm [Service] NGI Short read [Collaborative] NGI Stockholm (Genomics Production) [Collaborative] National Genomics Infrastructure [Collaborative]

Building a precision medicine infrastructure at a national level: The Swedish experience

Edsjö A, Lindstrand A, Gisselsson D, ..., Fioretos T, Rosenquist R

Camb. prisms Precis. med. 1 (-) - [2023-00-00; online 2023-02-27]

Clinical Genomics Gothenburg [Collaborative]

Proteogenomics refines the molecular classification of chronic lymphocytic leukemia

Herbst SA, Vesterlund M, Helmboldt AJ, ..., Lehtiö J, Dietrich S

Nat Commun 13 (1) 6226 [2022-10-20; online 2022-10-20]

Global Proteomics and Proteogenomics [Technology development]

Cell-of-origin determined by both gene expression profiling and immunohistochemistry is the strongest predictor of survival in patients with diffuse large B-cell lymphoma.

Abdulla M, Hollander P, Pandzic T, ..., Rosenquist R, Amini RM

Am. J. Hematol. 95 (1) 57-67 [2020-01-00; online 2019-11-07]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Uppsala [Collaborative]