Molecular Precision Medicine

Whole-genome sequencing with AVITI and NovaSeq X Plus reveals comparable performance with contextual biases

Höjer, Pontus; Alneberg, Johannes; Lundin, Pär; Martin, Tom et al.

Part of NAR Genomics and Bioinformatics, 2026

• DOI for Whole-genome sequencing with AVITI and NovaSeq X Plus reveals comparable performance with contextual biases
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Interferon-α–Driven Stratification of B Cells Reveals Metabolic Reprogramming of Double-Negative, Naïve, and Transitional Cell Subsets and Refines Molecular Classification in Sjögren's Disease

Iperi, Cristian; Rekha, Akhiya Anilkumar; Arvidsson, Gustav; Nordmark, Gunnel et al.

Part of European Journal of Immunology, 2026

• DOI for Interferon-α–Driven Stratification of B Cells Reveals Metabolic Reprogramming of Double-Negative, Naïve, and Transitional Cell Subsets and Refines Molecular Classification in Sjögren's Disease

An integrative molecular map of pediatric B-cell precursor acute lymphoblastic leukemia

Krali, Olga; Enblad, Anna Pia; Sulyaeva, Julia; Gogishvili, Dea et al.

Part of Communications Medicine, 2026

• DOI for An integrative molecular map of pediatric B-cell precursor acute lymphoblastic leukemia
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Author's Response to the Commentary by Raitoharju E et al. on "Epigenome-wide analysis across the development span of pediatric acute lymphoblastic leukemia: backtracking to birth"

Nassar, Farah J.; Cahais, Vincent; McKay, Jill A.; Strathdee, Gordon et al.

Part of Molecular Cancer, 2026

• DOI for Author's Response to the Commentary by Raitoharju E et al. on "Epigenome-wide analysis across the development span of pediatric acute lymphoblastic leukemia: backtracking to birth"
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Midostaurin response in AML is shaped by a progenitor-like cell state selectively targeted by SMAC mimetics

Struyf, Nona; Gezelius, Henrik; Lundmark, Anders; Barizza, Chiara et al.

Part of npj Precision Oncology, 2026

• DOI for Midostaurin response in AML is shaped by a progenitor-like cell state selectively targeted by SMAC mimetics
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Circulating Cell-Free RNA Reflects Immune-Associated and Airway Remodeling Signatures in Equine Asthma

Zhang, Birong; Agdour, Hanna; Riihimäki, Miia; Hansen, Sanni et al.

Part of Journal of Immunology Research, 2026

• DOI for Circulating Cell-Free RNA Reflects Immune-Associated and Airway Remodeling Signatures in Equine Asthma
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Ex vivo drug responses and molecular profiles of 597 pediatric acute lymphoblastic leukemia patients

Enblad, Anna Pia; Krali, Olga; Gezelius, Henrik; Lundmark, Anders et al.

Part of HemaSphere, 2025

• DOI for Ex vivo drug responses and molecular profiles of 597 pediatric acute lymphoblastic leukemia patients
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Exploring a pico-well based scRNA-seq method (HIVE) for simplified processing of equine bronchoalveolar lavage cells

Fegraeus, Kim; Riihimäki, Miia; Nordlund, Jessica; Akula, Srinivas et al.

Part of PLOS ONE, 2025

• DOI for Exploring a pico-well based scRNA-seq method (HIVE) for simplified processing of equine bronchoalveolar lavage cells
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Fluctuating DNA methylation tracks cancer evolution at clinical scale

Gabbutt, Calum; Duran-Ferrer, Martí; Grant, Heather E.; Mallo, Diego et al.

Part of Nature, p. 764-773, 2025

• DOI for Fluctuating DNA methylation tracks cancer evolution at clinical scale
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Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare

Kampe, Anders; Gudmundsson, Sanna; Walsh, Colum P.; Lindblad-Toh, Kerstin et al.

Part of Nature Medicine, p. 1730-1732, 2025

• DOI for Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare

Error Reduction in Leukemia Machine Learning Classification With Conformal Prediction

Lysenkova, Mariya; Zachariah, Dave; Krali, Olga; Nordlund, Jessica

Part of JCO Clinical Cancer Informatics, 2025

• DOI for Error Reduction in Leukemia Machine Learning Classification With Conformal Prediction
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Epigenomic diagnosis and prognosis of Acute Myeloid Leukemia

Marchi, Francisco; Shastri, Vivek M.; Marrero, Richard J.; Nguyen, Nam H. K. et al.

Part of Nature Communications, 2025

• DOI for Epigenomic diagnosis and prognosis of Acute Myeloid Leukemia
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Genomic determinants of therapy response in ETV6::RUNX1 leukemia

Oksa, Laura; Moisio, Sanni; Maqbool, Khurram; Kramer, Roger et al.

Part of Leukemia, p. 2125-2139, 2025

• DOI for Genomic determinants of therapy response in ETV6::RUNX1 leukemia
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The potential role of environmentally associated DNA methylation in childhood acute lymphoblastic leukaemia subtypes

Saville, Jessica R.; Russell, Lisa J.; Padget, Kay; Ghantous, Akram et al.

Part of International Journal of Cancer, p. 1600-1612, 2025

• DOI for The potential role of environmentally associated DNA methylation in childhood acute lymphoblastic leukaemia subtypes
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A human pan-disease blood atlas of the circulating proteome

Álvez, María Bueno; Bergström, Sofia; Kenrick, Josefin; Johansson, Emil et al.

Part of Science, 2025

• DOI for A human pan-disease blood atlas of the circulating proteome

Multi-modal single cell sequencing of B cells in primary Sjögren's Syndrome.

Arvidsson, Gustav; Czarnewski, Paulo; Johansson, Alina; Raine, Amanda et al.

Part of Arthritis & Rheumatology, p. 255-267, 2024

• DOI for Multi-modal single cell sequencing of B cells in primary Sjögren's Syndrome.
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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Delgado-Vega, Angelica Maria; Höijer, Ida; Corcoran, Pádraic; Lysenkova, Mariya et al.

Part of Nature Genetics, p. 2287-2294, 2024

• DOI for Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

An endothelial regulatory module links blood pressure regulation with elite athletic performance

Fegraeus, Kim; Rosengren, Maria K.; Naboulsi, Rakan; Orlando, Ludovic et al.

Part of PLOS Genetics, 2024

• DOI for An endothelial regulatory module links blood pressure regulation with elite athletic performance
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Comparison of high-throughput single-cell RNA-seq methods for ex vivo drug screening

Gezelius, Henrik; Enblad, Anna Pia; Lundmark, Anders; Åberg, Martin et al.

Part of NAR Genomics and Bioinformatics, 2024

• DOI for Comparison of high-throughput single-cell RNA-seq methods for ex vivo drug screening
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Epigenome-wide analysis across the development span of pediatric acute lymphoblastic leukemia: backtracking to birth

Ghantous, Akram; Nussle, Semira Gonseth; Nassar, Farah J.; Spitz, Natalia et al.

Part of Molecular Cancer, 2024

• DOI for Epigenome-wide analysis across the development span of pediatric acute lymphoblastic leukemia: backtracking to birth
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A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing

Lysenkova, Mariya; Arvidsson, Gustav; Bunikis, Ignas; Lundmark, Anders et al.

Part of Life Science Alliance, 2024

• DOI for A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing
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BCP neoplasms: same or different?

Nordlund, Jessica

Part of Blood, p. 4-6, 2024

• DOI for BCP neoplasms: same or different?

Refining risk prediction in pediatric acute lymphoblastic leukemia through DNA methylation profiling

Orgueira, Adrian Mosquera; Krali, Olga; Miguez, Carlos Perez; Raindo, Andres Peleteiro et al.

Part of Clinical Epigenetics, 2024

• DOI for Refining risk prediction in pediatric acute lymphoblastic leukemia through DNA methylation profiling
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Effect of an endothelial regulatory module on plasma proteomics in exercising horses

Roudbar, Mahmoud Amiri; Rosengren, Maria K.; Mousavi, Seyedeh Fatemeh; Fegraeus, Kim et al.

Part of Comparative Biochemistry and Physiology - Part D, 2024

• DOI for Effect of an endothelial regulatory module on plasma proteomics in exercising horses

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

Alvez, Maria Bueno; Edfors, Fredrik; von Feilitzen, Kalle; Zwahlen, Martin et al.

Part of Nature Communications, 2023

• DOI for Next generation pan-cancer blood proteome profiling using proximity extension assay
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Increased MYB alternative promoter usage is associated with relapse in acute lymphoblastic leukemia

Fehr, André; Arvidsson, Gustav; Nordlund, Jessica; Lönnerholm, Gudmar et al.

Part of Genes, Chromosomes and Cancer, p. 597-606, 2023

• DOI for Increased MYB alternative promoter usage is associated with relapse in acute lymphoblastic leukemia
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Long-read whole-genome analysis of human single cells

Hård, Joanna; Mold, Jeff E; Eisfeldt, Jesper; Tellgren-Roth, Christian et al.

Part of Nature Communications, 2023

• DOI for Long-read whole-genome analysis of human single cells
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Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia

Krali, Olga; Marincevic-Zuniga, Yanara; Arvidsson, Gustav; Enblad, Anna Pia et al.

Part of npj Precision Oncology, 2023

• DOI for Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia
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Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies

Leclair, Valerie; Galindo-Feria, Angeles S.; Rothwell, Simon; Krystufkova, Olga et al.

Part of EBioMedicine, 2023

• DOI for Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies
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Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH

Lysenkova Wiklander, Mariya; Övernäs, Elin; Lagensjö, Johanna; Raine, Amanda et al.

Part of BMC Research Notes, 2023

• DOI for Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH
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Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance

Ren, Luyao; Duan, Xiaoke; Dong, Lianhua; Zhang, Rui et al.

Part of Genome Biology, 2023

• DOI for Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance
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Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia

Rezayee, Fatemah; Eisfeldt, Jesper; Skaftason, Aron; Ofverholm, Ingegerd et al.

Part of Frontiers in Oncology, 2023

• DOI for Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia
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Single-cell transcriptomics delineates the immune cell landscape in equine lower airways and reveals upregulation of FKBP5 in horses with asthma.

Riihimäki, Miia; Fegraeus, K. Jaderkvist; Nordlund, Jessica; Waern, Ida et al.

Part of Scientific Reports, p. 16261, 2023

• DOI for Single-cell transcriptomics delineates the immune cell landscape in equine lower airways and reveals upregulation of FKBP5 in horses with asthma.
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Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

Butler-Laporte, Guillaume; Povysil, Gundula; Kosmicki, Jack A; Cirulli, Elizabeth T et al.

Part of PLOS Genetics, 2022

• DOI for Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
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Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases

Lundtoft, Christian; Pucholt, Pascal; Martin, Myriam; Bianchi, Matteo et al.

Part of Arthritis & Rheumatology, p. 1440-1450, 2022

• DOI for Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases
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Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report

Oldoni, Emanuela; Saunders, Gary; Bietrix, Florence; Garcia Bermejo, Maria Laura et al.

Part of Frontiers in Molecular Biosciences, 2022

• DOI for Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report
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scSPLAT, a scalable plate-based protocol for single cell WGBS library preparation

Raine, Amanda; Lundmark, Anders; Annett, Alva; Wiman, Ann-Christin et al.

Part of Scientific Reports, 2022

• DOI for scSPLAT, a scalable plate-based protocol for single cell WGBS library preparation
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Transcriptome sequencing of archived lymphoma specimens is feasible and clinically relevant using exome capture technology

Skaftason, Aron; Qu, Ying; Abdulla, Maysaa; Nordlund, Jessica et al.

Part of Genes, Chromosomes and Cancer, p. 27-36, 2022

• DOI for Transcriptome sequencing of archived lymphoma specimens is feasible and clinically relevant using exome capture technology
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Variants in BANK1 are associated with lupus nephritis of European ancestry.

Bolin, Karin; Imgenberg-Kreuz, Juliana; Leonard, Dag; Sandling, Johanna K. et al.

Part of Genes and Immunity, p. 194-202, 2021

• DOI for Variants in BANK1 are associated with lupus nephritis of European ancestry.
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Contributions of de novo variants to systemic lupus erythematosus

Carlsson Almlöf, Jonas; Nystedt, Sara; Mechtidou, Aikaterini; Leonard, Dag et al.

Part of European Journal of Human Genetics, p. 184-193, 2021

• DOI for Contributions of de novo variants to systemic lupus erythematosus
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RAG1 co-expression signature identifies ETV6-RUNX1-like B-cell precursor acute lymphoblastic leukemia in children

Chen, Dongfeng; Camponeschi, Alessandro; Nordlund, Jessica; Marincevic-Zuniga, Yanara et al.

Part of Cancer Medicine, p. 3997-4003, 2021

• DOI for RAG1 co-expression signature identifies ETV6-RUNX1-like B-cell precursor acute lymphoblastic leukemia in children
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Single nucleus transcriptomics data integration recapitulates the major cell types in human liver

Diamanti, Klev; Inda Díaz, Juan Salvador; Raine, Amanda; Pan, Gang et al.

Part of Hepatology Research, p. 233-238, 2021

• DOI for Single nucleus transcriptomics data integration recapitulates the major cell types in human liver
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Immune cells lacking Y chromosome show dysregulation of autosomal gene expression

Dumanski, Jan P.; Halvardson, Jonatan; Davies, Hanna; Rychlicka-Buniowska, Edyta et al.

Part of Cellular and Molecular Life Sciences (CMLS), p. 4019-4033, 2021

• DOI for Immune cells lacking Y chromosome show dysregulation of autosomal gene expression
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Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

Fang, Li Tai; Zhu, Bin; Zhao, Yongmei; Chen, Wanqiu et al.

Part of Nature Biotechnology, p. 1151-1160, 2021

• DOI for Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

The SEQC2 epigenomics quality control (EpiQC) study

Foox, Jonathan; Nordlund, Jessica; Lalancette, Claudia; Gong, Ting et al.

Part of Genome Biology, 2021

• DOI for The SEQC2 epigenomics quality control (EpiQC) study
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DNA Methylation-Based Interferon Scores Associate With Sub-Phenotypes in Primary Sjögren's Syndrome

Imgenberg-Kreuz, Juliana; Sandling, Johanna K.; Norheim, Katrine Braekke; Johnsen, Svein Joar Auglaend et al.

Part of Frontiers in Immunology, 2021

• DOI for DNA Methylation-Based Interferon Scores Associate With Sub-Phenotypes in Primary Sjögren's Syndrome
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DNA Methylation Signatures Predict Cytogenetic Subtype and Outcome in Pediatric Acute Myeloid Leukemia (AML)

Krali, Olga; Palle, J; Bäcklin, Christofer; Abrahamsson, Jonas et al.

Part of Genes, 2021

• DOI for DNA Methylation Signatures Predict Cytogenetic Subtype and Outcome in Pediatric Acute Myeloid Leukemia (AML)
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Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99

Mattisson, Jonas; Danielsson, Marcus; Hammond, Maria; Davies, Hanna et al.

Part of Scientific Reports, 2021

• DOI for Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99
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Expression of BCL6 in paediatric B-cell acute lymphoblastic leukaemia and association with prognosis

Mäkinen, Artturi; Nikkilä, Atte; Mehtonen, Juha; Teppo, Susanna et al.

Part of Pathology, p. 875-882, 2021

• DOI for Expression of BCL6 in paediatric B-cell acute lymphoblastic leukaemia and association with prognosis
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Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing

Sandling, Johanna K.; Pucholt, Pascal; Hultin-Rosenberg, Lina; Farias, Fabiana H. G. et al.

Part of Annals of the Rheumatic Diseases, p. 109-117, 2021

• DOI for Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
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