Gyllensten U

Deep plasma proteomics identifies and validates an eight-protein biomarker panel that separate benign from malignant tumors in ovarian cancer.

Moskov M, Hedlund Lindberg J, Lycke M, ..., Stålberg K, Enroth S

Commun Med (Lond) 5 (1) 230 [2025-06-12; online 2025-06-12]

NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare.

Kämpe A, Gudmundsson S, Walsh CP, ..., Lindstrand A, Lappalainen T

Nat. Med. 31 (6) 1730-1732 [2025-06-00; online 2025-04-05]

Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]

Genetic insights into resting heart rate and its role in cardiovascular disease.

van de Vegte YJ, Eppinga RN, van der Ende MY, ..., Verweij N, van der Harst P

Nat Commun 14 (1) 4646 [2023-08-02; online 2023-08-02]

Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Next generation pan-cancer blood proteome profiling using proximity extension assay.

Álvez MB, Edfors F, von Feilitzen K, ..., Fagerberg L, Uhlén M

Nat Commun 14 (1) 4308 [2023-07-18; online 2023-07-18]

Affinity Proteomics Uppsala [Collaborative] Bioinformatics Support for Computational Resources [Service] NGI Proteomics [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]

Implementing precision medicine in a regionally organized healthcare system in Sweden.

Fioretos T, Wirta V, Cavelier L, ..., Edsjö A, Rosenquist R

Nat. Med. 28 (10) 1980-1982 [2022-10-00; online 2022-09-20]

Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Linköping [Service] Clinical Genomics Stockholm [Collaborative] Clinical Genomics Umeå [Service] Clinical Genomics Uppsala [Collaborative]

Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention.

Wang Z, Emmerich A, Pillon NJ, ..., Loos RJF, Hoed Md

Nat. Genet. 54 (9) 1332-1344 [2022-09-00; online 2022-09-07]

NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]

Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability.

Kierczak M, Rafati N, Höglund J, ..., Karlsson T, Johansson Å

Nat Commun 13 (1) 2532 [2022-05-09; online 2022-05-09]

Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations.

Höijer I, Emmanouilidou A, Östlund R, ..., den Hoed M, Ameur A

Nat Commun 13 (1) 627 [2022-02-02; online 2022-02-02]

Bioinformatics Support for Computational Resources [Service] NGI Long read [Technology development] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]

Temporal changes in the vaginal microbiota in self-samples and its association with persistent HPV16 infection and CIN2.

Berggrund M, Gustavsson I, Aarnio R, ..., Olovsson M, Gyllensten U

Virol J 17 (1) 147 [2020-10-07; online 2020-10-07]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]