Magnusson M

PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.

Rasi C, Nilsson D, Magnusson M, ..., Wirta V, Stranneheim H

Hum. Mutat. 43 (6) 708-716 [2022-06-00; online 2022-03-07]

Clinical Genomics Stockholm [Technology development]

Loqusdb: added value of an observations database of local genomic variation.

Magnusson M, Eisfeldt J, Nilsson D, ..., Wedell A, Stranneheim H

BMC Bioinformatics 21 (1) 273 [2020-07-01; online 2020-07-01]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Stockholm [Technology development]

Chanjo: Clincal grade sequence coverage analysis

Andeer R, Magnusson M, Wedell A, Stranneheim H

F1000Res 9 (-) 615 [2020-06-16; online 2020-06-16]

Clinical Genomics Stockholm [Technology development]