Johansson Å

T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population.

Schmitz D, Ameur A, Johansson Å

Genome Res. - (-) - [2025-10-10; online 2025-10-10]

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

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]

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]

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]

Causal effects of inflammatory protein biomarkers on inflammatory diseases.

Ek WE, Karlsson T, Höglund J, Rask-Andersen M, Johansson Å

Sci Adv 7 (50) eabl4359 [2021-12-10; online 2021-12-08]

Affinity Proteomics Uppsala [Service]

Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.

Folkersen L, Gustafsson S, Wang Q, ..., Ingelsson E, Mälarstig A

Nat Metab 2 (10) 1135-1148 [2020-10-00; online 2020-10-16]

Affinity Proteomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Associations of autozygosity with a broad range of human phenotypes.

Clark DW, Okada Y, Moore KHS, ..., Kubo M, Wilson JF

Nat Commun 10 (1) 4957 [2019-10-31; online 2019-10-31]

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

Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.

Folkersen L, Fauman E, Sabater-Lleal M, ..., Hamsten A, Mälarstig A

PLoS Genet. 13 (4) e1006706 [2017-04-00; online 2017-04-03]

Affinity Proteomics Uppsala [Service] Bioinformatics Support for Computational Resources [Service] Clinical Biomarkers [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] PLA and Single Cell Proteomics [Service]