Molekylär precisionsmedicin

Välkommen till forskargruppen i molekylär precisionsmedicin! Vi forskar på genetik och epigenetik i leukemi och autoimmuna sjukdomar.
Beskrivning av vår forskning
Forskargruppen i Molekylär precisionsmedicin (MPM), som leds av Dr. Jessica Nordlund, startades 2020. MPM-forskargruppen utvecklar och tillämpar nya molekylära metoder för att analysera genom, transkriptom, epigenom och proteom i kliniska prover. Genom att integrera flera typer av -omics-data med maskininlärning strävar vi efter att identifiera molekylära biomarkörer som skiljer en viss patient från andra patienter med liknande kliniska presentationer, förbättra precisionen i molekylära diagnoser och identifiera nya behandlingsmetoder.

Medlemmarna i forskargruppen Molekylär precisionsmedicin.
Gruppmedlemmar
Publikationer
Multi-modal single cell sequencing of B cells in primary Sjögren's Syndrome.
Ingår i Arthritis & Rheumatology, s. 255-267, 2024
- DOI för Multi-modal single cell sequencing of B cells in primary Sjögren's Syndrome.
- Ladda ner fulltext (pdf) av Multi-modal single cell sequencing of B cells in primary Sjögren's Syndrome.
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
Ingår i Nature Genetics, s. 2287-2294, 2024
An endothelial regulatory module links blood pressure regulation with elite athletic performance
Ingår i PLOS Genetics, 2024
- DOI för An endothelial regulatory module links blood pressure regulation with elite athletic performance
- Ladda ner fulltext (pdf) av An endothelial regulatory module links blood pressure regulation with elite athletic performance
Comparison of high-throughput single-cell RNA-seq methods for ex vivo drug screening
Ingår i NAR Genomics and Bioinformatics, 2024
- DOI för Comparison of high-throughput single-cell RNA-seq methods for ex vivo drug screening
- Ladda ner fulltext (pdf) av Comparison of high-throughput single-cell RNA-seq methods for ex vivo drug screening
Ingår i Molecular Cancer, 2024
- DOI för Epigenome-wide analysis across the development span of pediatric acute lymphoblastic leukemia: backtracking to birth
- Ladda ner fulltext (pdf) av Epigenome-wide analysis across the development span of pediatric acute lymphoblastic leukemia: backtracking to birth
A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing
Ingår i Life Science Alliance, 2024
- DOI för A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing
- Ladda ner fulltext (pdf) av A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing
BCP neoplasms: same or different?
Ingår i Blood, s. 4-6, 2024
Refining risk prediction in pediatric acute lymphoblastic leukemia through DNA methylation profiling
Ingår i Clinical Epigenetics, 2024
- DOI för Refining risk prediction in pediatric acute lymphoblastic leukemia through DNA methylation profiling
- Ladda ner fulltext (pdf) av Refining risk prediction in pediatric acute lymphoblastic leukemia through DNA methylation profiling
Effect of an endothelial regulatory module on plasma proteomics in exercising horses
Ingår i Comparative Biochemistry and Physiology - Part D, 2024
Increased MYB alternative promoter usage is associated with relapse in acute lymphoblastic leukemia
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
- Ladda ner fulltext (pdf) av Increased MYB alternative promoter usage is associated with relapse in acute lymphoblastic leukemia
Long-read whole-genome analysis of human single cells
Ingår i Nature Communications, 2023
- DOI för Long-read whole-genome analysis of human single cells
- Ladda ner fulltext (pdf) av Long-read whole-genome analysis of human single cells
Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia
Ingår i npj Precision Oncology, 2023
- DOI för Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia
- Ladda ner fulltext (pdf) av Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia
Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies
Ingår i EBioMedicine, 2023
- DOI för Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies
- Ladda ner fulltext (pdf) av Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies
Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH
Ingår i BMC Research Notes, 2023
- DOI för Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH
- Ladda ner fulltext (pdf) av Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH
Ingår i Genome Biology, 2023
- DOI för Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance
- Ladda ner fulltext (pdf) av Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance
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
- Ladda ner fulltext (pdf) av Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia
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.
- Ladda ner fulltext (pdf) av Single-cell transcriptomics delineates the immune cell landscape in equine lower airways and reveals upregulation of FKBP5 in horses with asthma.
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
- Ladda ner fulltext (pdf) av Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
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
- Ladda ner fulltext (pdf) av Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases
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
- Ladda ner fulltext (pdf) av Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report
scSPLAT, a scalable plate-based protocol for single cell WGBS library preparation
Ingår i Scientific Reports, 2022
- DOI för scSPLAT, a scalable plate-based protocol for single cell WGBS library preparation
- Ladda ner fulltext (pdf) av scSPLAT, a scalable plate-based protocol for single cell WGBS library preparation
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
- Ladda ner fulltext (pdf) av Transcriptome sequencing of archived lymphoma specimens is feasible and clinically relevant using exome capture technology
Variants in BANK1 are associated with lupus nephritis of European ancestry.
Ingår i Genes and Immunity, s. 194-202, 2021
- DOI för Variants in BANK1 are associated with lupus nephritis of European ancestry.
- Ladda ner fulltext (pdf) av Variants in BANK1 are associated with lupus nephritis of European ancestry.
Contributions of de novo variants to systemic lupus erythematosus
Ingår i European Journal of Human Genetics, s. 184-193, 2021
- DOI för Contributions of de novo variants to systemic lupus erythematosus
- Ladda ner fulltext (pdf) av Contributions of de novo variants to systemic lupus erythematosus
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
- Ladda ner fulltext (pdf) av RAG1 co-expression signature identifies ETV6-RUNX1-like B-cell precursor acute lymphoblastic leukemia in children
Single nucleus transcriptomics data integration recapitulates the major cell types in human liver
Ingår i Hepatology Research, s. 233-238, 2021
- DOI för Single nucleus transcriptomics data integration recapitulates the major cell types in human liver
- Ladda ner fulltext (pdf) av Single nucleus transcriptomics data integration recapitulates the major cell types in human liver
Immune cells lacking Y chromosome show dysregulation of autosomal gene expression
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
- Ladda ner fulltext (pdf) av Immune cells lacking Y chromosome show dysregulation of autosomal gene expression
Ingår i Nature Biotechnology, s. 1151-1160, 2021
The SEQC2 epigenomics quality control (EpiQC) study
Ingår i Genome Biology, 2021
- DOI för The SEQC2 epigenomics quality control (EpiQC) study
- Ladda ner fulltext (pdf) av The SEQC2 epigenomics quality control (EpiQC) study
DNA Methylation-Based Interferon Scores Associate With Sub-Phenotypes in Primary Sjögren's Syndrome
Ingår i Frontiers in Immunology, 2021
- DOI för DNA Methylation-Based Interferon Scores Associate With Sub-Phenotypes in Primary Sjögren's Syndrome
- Ladda ner fulltext (pdf) av DNA Methylation-Based Interferon Scores Associate With Sub-Phenotypes in Primary Sjögren's Syndrome
Ingår i Genes, 2021
- DOI för DNA Methylation Signatures Predict Cytogenetic Subtype and Outcome in Pediatric Acute Myeloid Leukemia (AML)
- Ladda ner fulltext (pdf) av DNA Methylation Signatures Predict Cytogenetic Subtype and Outcome in Pediatric Acute Myeloid Leukemia (AML)
Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99
Ingår i Scientific Reports, 2021
- DOI för Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99
- Ladda ner fulltext (pdf) av Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99
Expression of BCL6 in paediatric B-cell acute lymphoblastic leukaemia and association with prognosis
Ingår i Pathology, s. 875-882, 2021
- DOI för Expression of BCL6 in paediatric B-cell acute lymphoblastic leukaemia and association with prognosis
- Ladda ner fulltext (pdf) av Expression of BCL6 in paediatric B-cell acute lymphoblastic leukaemia and association with prognosis
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
- Ladda ner fulltext (pdf) av Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
Ingår i Scientific Reports, 2021
- DOI för Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia
- Ladda ner fulltext (pdf) av Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia
Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing
Ingår i Nature Biotechnology, s. 1141-1150, 2021
Ingår i Scientific Data, 2021
- DOI för Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study
- Ladda ner fulltext (pdf) av Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study
Ingår i BMC Biology, 2020
- DOI för Genome assembly of the basket willow, Salix viminalis, reveals earliest stages of sex chromosome expansion
- Ladda ner fulltext (pdf) av Genome assembly of the basket willow, Salix viminalis, reveals earliest stages of sex chromosome expansion
Recent advances in single-molecule fluorescence microscopy render structural biology dynamic
Ingår i Current opinion in structural biology, s. 61-68, 2020
- DOI för Recent advances in single-molecule fluorescence microscopy render structural biology dynamic
- Ladda ner fulltext (pdf) av Recent advances in single-molecule fluorescence microscopy render structural biology dynamic
Ingår i RMD Open, 2020
- DOI för Protein and DNA methylation-based scores as surrogate markers for interferon system activation in patients with primary Sjögren's syndrome
- Ladda ner fulltext (pdf) av Protein and DNA methylation-based scores as surrogate markers for interferon system activation in patients with primary Sjögren's syndrome
The proliferative history shapes the DNA methylome of B-cell tumors and predicts clinical outcome
Ingår i NATURE CANCER, s. 1066-1081, 2020
Clinicopathological features and prognostic value of SOX11 in childhood acute lymphoblastic leukemia
Ingår i Scientific Reports, 2020
- DOI för Clinicopathological features and prognostic value of SOX11 in childhood acute lymphoblastic leukemia
- Ladda ner fulltext (pdf) av Clinicopathological features and prognostic value of SOX11 in childhood acute lymphoblastic leukemia
Ingår i Leukemia and Lymphoma, s. 604-613, 2020
- DOI för Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia
- Ladda ner fulltext (pdf) av Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia
Ingår i PLOS Genetics, 2020
- DOI för Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling
- Ladda ner fulltext (pdf) av Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling
Ingår i Scientific Reports, 2020
- DOI för Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia by linked-read whole-genome sequencing
- Ladda ner fulltext (pdf) av Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia by linked-read whole-genome sequencing
Ingår i Annals of the Rheumatic Diseases, s. 363-369, 2020
- DOI för High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus
- Ladda ner fulltext (pdf) av High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus
Ingår i Blood, s. 2319-2333, 2020
Ingår i Human Genetics, s. 141-150, 2019
- DOI för Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus
- Ladda ner fulltext (pdf) av Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus
Ingår i British Journal of Haematology, s. 418-423, 2019
Arteria: An automation system for a sequencing core facility
Ingår i GigaScience, 2019
- DOI för Arteria: An automation system for a sequencing core facility
- Ladda ner fulltext (pdf) av Arteria: An automation system for a sequencing core facility