Wirta V

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

Hammarsjö A, Pettersson M, Chitayat D, ..., Lindstrand A, Grigelioniene G

J. Hum. Genet. 66 (10) 995-1008 [2021-10-00; online 2021-04-20]

Bioinformatics Compute and Storage [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions.

Gong B, Li D, Kusko R, ..., Jones W, Xu J

Genome Biol. 22 (1) 109 [2021-04-16; online 2021-04-16]

Clinical Genomics Stockholm [Collaborative]

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H, Lagerstedt-Robinson K, Magnusson M, ..., Lindstrand A, Wedell A

Genome Med 13 (1) 40 [2021-03-17; online 2021-03-17]

Clinical Genomics Stockholm [Collaborative]

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 Compute and Storage [Service] Clinical Genomics Stockholm [Technology development]

Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants.

Garcia M, Juhos S, Larsson M, ..., Käller M, Nystedt B

F1000Res 9 (-) 63 [2020-01-29; online 2020-01-29]

Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Technology development] Bioinformatics Support and Infrastructure [Technology development] Bioinformatics Support, Infrastructure and Training [Technology development] Clinical Genomics Stockholm [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

Lindstrand A, Eisfeldt J, Pettersson M, ..., Lundin J, Nilsson D

Genome Med 11 (1) 68 [2019-11-07; online 2019-11-07]

Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics Stockholm [Technology development] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Ein Fall von Pankreaskarzinom

Löhr JM, Kordes M, Gustafsson-Liljefors M, ..., Permert J, Jäger D

Forum 33 (4) 232-235 [2018-09-00; online 2018-08-14]

Clinical Genomics Stockholm [Collaborative]

Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report.

Lundin KE, Wang Q, Hamasy A, ..., Ekwall O, Smith CIE

BMC Pediatr 18 (1) 285 [2018-08-29; online 2018-08-29]

Clinical Genomics Stockholm [Collaborative]

Bioinformatory-assisted analysis of next-generation sequencing data for precision medicine in pancreatic cancer.

Malgerud L, Lindberg J, Wirta V, ..., Grönberg H, Löhr JM

Mol Oncol 11 (10) 1413-1429 [2017-10-00; online 2017-08-08]

Clinical Genomics Stockholm [Service]

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.

Nilsson D, Pettersson M, Gustavsson P, ..., Carvalho CMB, Lindstrand A

Hum. Mutat. 38 (2) 180-192 [2017-02-00; online 2016-12-05]

Bioinformatics Compute and Storage [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

CTNND2-a candidate gene for reading problems and mild intellectual disability.

Hofmeister W, Nilsson D, Topa A, ..., Syk Lundberg E, Lindstrand A

J. Med. Genet. 52 (2) 111-122 [2015-02-00; online 2014-12-05]

Clinical Genomics Stockholm NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

Endonuclease specificity and sequence dependence of type IIS restriction enzymes.

Lundin S, Jemt A, Terje-Hegge F, ..., Lexow P, Lundeberg J

PLoS ONE 10 (1) e0117059 [2015-01-28; online 2015-01-28]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure