Molekylär precisionsmedicin

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.

Ingår i NAR Genomics and Bioinformatics, 2026

• DOI för Whole-genome sequencing with AVITI and NovaSeq X Plus reveals comparable performance with contextual biases
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An integrative molecular map of pediatric B-cell precursor acute lymphoblastic leukemia

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

Ingår i Communications Medicine, 2026

• DOI för 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.

Ingår i Molecular Cancer, 2026

• DOI för 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.

Ingår i npj Precision Oncology, 2026

• DOI för 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.

Ingår i Journal of Immunology Research, 2026

• DOI för 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.

Ingår i HemaSphere, 2025

• DOI för 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.

Ingår i PLOS ONE, 2025

• DOI för 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.

Ingår i Nature, s. 764-773, 2025

• DOI för 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.

Ingår i Nature Medicine, s. 1730-1732, 2025

• DOI för 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

Ingår i JCO Clinical Cancer Informatics, 2025

• DOI för 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.

Ingår i Nature Communications, 2025

• DOI för 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.

Ingår i Leukemia, s. 2125-2139, 2025

• DOI för 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.

Ingår i International Journal of Cancer, s. 1600-1612, 2025

• DOI för 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.

Ingår i Science, 2025

• DOI för 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.

Ingår i Arthritis & Rheumatology, s. 255-267, 2024

• DOI för 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.

Ingår i Nature Genetics, s. 2287-2294, 2024

• DOI för 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.

Ingår i PLOS Genetics, 2024

• DOI för 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.

Ingår i NAR Genomics and Bioinformatics, 2024

• DOI för 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.

Ingår i Molecular Cancer, 2024

• DOI för 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.

Ingår i Life Science Alliance, 2024

• DOI för 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

Ingår i Blood, s. 4-6, 2024

• DOI för 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.

Ingår i Clinical Epigenetics, 2024

• DOI för 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.

Ingår i Comparative Biochemistry and Physiology - Part D, 2024

• DOI för 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.

Ingår i Nature Communications, 2023

• DOI för 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.

Ingår i Genes, Chromosomes and Cancer, s. 597-606, 2023

• DOI för 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.

Ingår i Nature Communications, 2023

• DOI för 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.

Ingår i npj Precision Oncology, 2023

• DOI för 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.

Ingår i EBioMedicine, 2023

• DOI för 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.

Ingår i BMC Research Notes, 2023

• DOI för 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.

Ingår i Genome Biology, 2023

• DOI för 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.

Ingår i Frontiers in Oncology, 2023

• DOI för 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.

Ingår i Scientific Reports, s. 16261, 2023

• DOI för 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.

Ingår i PLOS Genetics, 2022

• DOI för 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.

Ingår i Arthritis & Rheumatology, s. 1440-1450, 2022

• DOI för 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.

Ingår i Frontiers in Molecular Biosciences, 2022

• DOI för 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.

Ingår i Scientific Reports, 2022

• DOI för 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.

Ingår i Genes, Chromosomes and Cancer, s. 27-36, 2022

• DOI för 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.

Ingår i Genes and Immunity, s. 194-202, 2021

• DOI för 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.

Ingår i European Journal of Human Genetics, s. 184-193, 2021

• DOI för 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.

Ingår i Cancer Medicine, s. 3997-4003, 2021

• DOI för 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.

Ingår i Hepatology Research, s. 233-238, 2021

• DOI för 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.

Ingår i Cellular and Molecular Life Sciences (CMLS), s. 4019-4033, 2021

• DOI för 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.

Ingår i Nature Biotechnology, s. 1151-1160, 2021

• DOI för 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.

Ingår i Genome Biology, 2021

• DOI för 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.

Ingår i Frontiers in Immunology, 2021

• DOI för 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.

Ingår i Genes, 2021

• DOI för 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.

Ingår i Scientific Reports, 2021

• DOI för 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.

Ingår i Pathology, s. 875-882, 2021

• DOI för 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.

Ingår i Annals of the Rheumatic Diseases, s. 109-117, 2021

• DOI för Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
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Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia

Sayyab, Shumaila; Lundmark, Anders; Larsson, Malin; Ringner, Markus et al.

Ingår i Scientific Reports, 2021

• DOI för Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia
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