Genome Med

ISSN	1756-994X
ISSN-L	1756-994X
IUID	a31f445f31764e128bdff346ac4ebcf2
Modified	2020-11-27T13:14:06.939Z
Created	2017-05-09T09:12:27.685Z

Year 2026

PubMed DOI Crossref

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.

Lindstrand A, Lagerstedt-Robinson K, Jemt A, ..., Wirta V, Wedell A

Genome Med 18 (1) - [2026-03-30; online 2026-03-30]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

PubMed DOI Crossref

Multiomics assessment of lung adenocarcinoma subtypes defined through tumor purity-adjusted DNA methylation.

Nacer DF, Arbajian E, Veerla S, ..., Planck M, Staaf J

Genome Med 18 (1) - [2026-02-14; online 2026-02-14]

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

PubMed DOI Crossref

Multi-omics data integration from patients with carotid stenosis illuminates key molecular signatures of atherosclerotic instability.

Das V, Narayanan S, Zhang X, ..., Hedin U, Matic L

Genome Med 18 (1) - [2026-02-06; online 2026-02-06]

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

PubMed DOI Crossref

Long-read genome sequencing enhances diagnostics of pediatric neurological disorders.

Ek M, Kvarnung M, Ten Berk de Boer E, ..., Eisfeldt J, Lindstrand A

Genome Med 18 (1) 12 [2026-01-09; online 2026-01-09]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Year 2025

PubMed DOI Crossref

Disease-specific epigenetic deregulation of enhancers, transposons, and polycomb targets in acute promyelocytic leukemia.

Zhong X, Cordeddu L, Gamboa-Cedeno A, ..., Lennartsson A, Lehmann S

Genome Med 17 (1) 135 [2025-10-30; online 2025-10-30]

Bioinformatics Support for Computational Resources [Service] NGI Other [Service] NGI Short read [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Recommendations for bioinformatics in clinical practice.

Lavrichenko K, Engdal ES, Marvig RL, ..., Wirta V, Bagger FO

Genome Med 17 (1) 124 [2025-10-17; online 2025-10-17]

Clinical Genomics [Collaborative] Clinical Genomics Umeå [Collaborative]

PubMed DOI Crossref

Prematurity and genetic liability for autism spectrum disorder.

Zhang Y, Yahia A, Sandin S, Åden U, Tammimies K

Genome Med 17 (1) 108 [2025-10-02; online 2025-10-02]

Bioinformatics Support for Computational Resources [Service]

Year 2024

PubMed DOI Crossref

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Pehlivan D, Bengtsson JD, Bajikar SS, ..., Zoghbi HY, Carvalho CMB

Genome Med 16 (1) 146 [2024-12-18; online 2024-12-18]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Year 2023

PubMed DOI Crossref

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Matuozzo D, Talouarn E, Marchal A, ..., Abel L, Cobat A

Genome Med 15 (1) - [2023-04-05; online 2023-04-05]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Year 2022

PubMed DOI Crossref

Loss of Y in leukocytes as a risk factor for critical COVID-19 in men

Bruhn-Olszewska B, Davies H, Sarkisyan D, ..., Frithiof R, Dumanski JP

Genome Med 14 (1) 139 [2022-12-14; online 2022-12-14]

Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative]

Year 2021

PubMed DOI Crossref

A community-driven resource for genomic epidemiology and antimicrobial resistance prediction of Neisseria gonorrhoeae at Pathogenwatch.

Sánchez-Busó L, Yeats CA, Taylor B, ..., Unemo M, Aanensen DM

Genome Med 13 (1) 61 [2021-04-19; online 2021-04-19]

Clinical Genomics [Collaborative] Clinical Genomics Örebro [Collaborative]

PubMed DOI Crossref

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Gillentine MA, Wang T, Hoekzema K, ..., Bernier RA, Eichler EE

Genome Med 13 (1) 63 [2021-04-19; online 2021-04-19]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

PubMed DOI Crossref

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 [Collaborative] Clinical Genomics Stockholm [Collaborative]

Year 2020

PubMed DOI Crossref

Whole blood co-expression modules associate with metabolic traits and type 2 diabetes: an IMI-DIRECT study.

Gudmundsdottir V, Pedersen HK, Mazzoni G, ..., Pedersen O, Brunak S

Genome Med 12 (1) 109 [2020-12-01; online 2020-12-01]

Affinity Proteomics Stockholm [Collaborative]

PubMed DOI Crossref

Whole-genome sequence association analysis of blood proteins in a longitudinal wellness cohort.

Zhong W, Gummesson A, Tebani A, ..., Fagerberg L, Uhlén M

Genome Med 12 (1) 53 [2020-06-23; online 2020-06-23]

Affinity Proteomics Stockholm [Collaborative] Bioinformatics Support for Computational Resources [Service]

Year 2019

PubMed DOI Crossref

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

Year 2018

PubMed DOI Crossref

Linking FOXO3, NCOA3, and TCF7L2 to Ras pathway phenotypes through a genome-wide forward genetic screen in human colorectal cancer cells

Kundu S, Ali MA, Handin N, ..., Hellström M, Sjöblom T

Genome Med 10 (1) - [2018-12-00; online 2018-01-04]

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

PubMed DOI Crossref

Cell-free DNA profiling of metastatic prostate cancer reveals microsatellite instability, structural rearrangements and clonal hematopoiesis.

Mayrhofer M, De Laere B, Whitington T, ..., Grönberg H, Lindberg J

Genome Med 10 (1) 85 [2018-11-21; online 2018-05-11]

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

Year 2017

PubMed DOI Crossref

Type 2 diabetes and obesity induce similar transcriptional reprogramming in human myocytes.

Väremo L, Henriksen TI, Scheele C, ..., Pedersen BK, Nielsen J

Genome Med 9 (1) 47 [2017-05-25; online 2017-05-25]

Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Year 2015

PubMed DOI Crossref

Many obesity-associated SNPs strongly associate with DNA methylation changes at proximal promoters and enhancers.

Voisin S, Almén MS, Zheleznyakova GY, ..., Rask-Andersen M, Schiöth HB

Genome Med 7 (-) 103 [2015-10-08; online 2015-10-08]

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

Year 2012

PubMed DOI Crossref

Comprehensive analysis of the genome transcriptome and proteome landscapes of three tumor cell lines.

Akan P, Alexeyenko A, Costea PI, ..., Uhlén M, Lundeberg J

Genome Med 4 (11) 86 [2012-11-18; online 2012-11-18]

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