The most recent publications from the centre as generated by Publika:
Publications 2021
A heterozygous germline CD100 mutation in a family with primary sclerosing cholangitis
Sci Transl Med, 13 (582)
DOI 10.1126/scitranslmed.abb0036, PubMed 33627483
Proteomic analyses Identify Major Vault Protein as a Prognostic Biomarker for Fatal Prostate Cancer
Carcinogenesis (in press)
DOI 10.1093/carcin/bgab015, PubMed 33609362
Designing deep learning studies in cancer diagnostics
Nat Rev Cancer, 21 (3), 199-211
DOI 10.1038/s41568-020-00327-9, PubMed 33514930
Editorial: Genomic Colocalization and Enrichment Analyses
Front Genet, 11, 617876
DOI 10.3389/fgene.2020.617876, PubMed 33574832
Deep learning and cancer biomarkers: recognising lead-time bias - Authors' reply
Lancet, 397 (10270), 194-195
DOI 10.1016/S0140-6736(21)00035-0, PubMed 33453777
Polygenic overlap and shared genetic loci between loneliness, severe mental disorders, and cardiovascular disease risk factors suggest shared molecular mechanisms
Transl Psychiatry, 11 (1), 3
DOI 10.1038/s41398-020-01142-4, PubMed 33414458
Publications 2020
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
Genet Med
DOI 10.1038/s41436-020-01029-1, PubMed 33257847
Accuracy and efficiency of germline variant calling pipelines for human genome data
Sci Rep, 10 (1), 20222
DOI 10.1038/s41598-020-77218-4, PubMed 33214604
T cell receptor repertoire as a potential diagnostic marker for celiac disease
Clin Immunol, 222, 108621
DOI 10.1016/j.clim.2020.108621, PubMed 33197618
Late-Gadolinium Enhancement Interface Area and Electrophysiological Simulations Predict Arrhythmic Events in Patients With Nonischemic Dilated Cardiomyopathy
JACC Clin Electrophysiol, 7 (2), 238-249
DOI 10.1016/j.jacep.2020.08.036, PubMed 33602406
Serum RNA Profiling in the 10-Years Period Prior to Diagnosis of Testicular Germ Cell Tumor
Front Oncol, 10, 574977
DOI 10.3389/fonc.2020.574977, PubMed 33251139
HMST-Seq-Analyzer: A new python tool for differential methylation and hydroxymethylation analysis in various DNA methylation sequencing data
Comput Struct Biotechnol J, 18, 2877-2889
DOI 10.1016/j.csbj.2020.09.038, PubMed 33163148
Epigenome-wide analysis of methylation changes in the sequence of gallstone disease, dysplasia, and gallbladder cancer
Hepatology (in press)
DOI 10.1002/hep.31585, PubMed 33020926
Beware the Jaccard: the choice of similarity measure is important and non-trivial in genomic colocalisation analysis
Brief Bioinform, 21 (5), 1523-1530
DOI 10.1093/bib/bbz083, PubMed 31624847
Lifetime antimicrobial use is associated with weight status in early adolescence-A register-based cohort study
Pediatr Obes, 16 (3), e12727
DOI 10.1111/ijpo.12727, PubMed 32959492
Phenotype-specific differences in polygenicity and effect size distribution across functional annotation categories revealed by AI-MiXeR
Bioinformatics, 36 (18), 4749-4756
DOI 10.1093/bioinformatics/btaa568, PubMed 32539089
Author Correction: Understanding the genetic determinants of the brain with MOSTest
Nat Commun, 11 (1), 4700
DOI 10.1038/s41467-020-18628-w, PubMed 32929091
Tiårsprediksjon av hjerte- og karsykdom hos friske norske menn basert på NORRISK-2
Tidsskr Nor Laegeforen, 140 (12)
DOI 10.4045/tidsskr.20.0089, PubMed 32900157
RNA Sequencing of Hepatobiliary Cancer Cell Lines: Data and Applications to Mutational and Transcriptomic Profiling
Cancers (Basel), 12 (9)
DOI 10.3390/cancers12092510, PubMed 32899426
Frequent copy number gains of SLC2A3 and ETV1 in testicular embryonal carcinomas
Endocr Relat Cancer, 27 (9), 457-468
DOI 10.1530/ERC-20-0064, PubMed 32580154
The uracil-DNA glycosylase UNG protects the fitness of normal and cancer B cells expressing AID
NAR Cancer, 2 (3), zcaa019
DOI 10.1093/narcan/zcaa019, PubMed 33554121
Antimicrobial drug use in the first decade of life influences saliva microbiota diversity and composition
Microbiome, 8 (1), 121
DOI 10.1186/s40168-020-00893-y, PubMed 32825849
A framework to assess the quality and impact of bioinformatics training across ELIXIR
PLoS Comput Biol, 16 (7), e1007976
DOI 10.1371/journal.pcbi.1007976, PubMed 32702016
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database
J Clin Med, 9 (7)
DOI 10.3390/jcm9072290, PubMed 32708519
Understanding the genetic determinants of the brain with MOSTest
Nat Commun, 11 (1), 3512
DOI 10.1038/s41467-020-17368-1, PubMed 32665545
National Early Warning Score 2 (NEWS2) on admission predicts severe disease and in-hospital mortality from Covid-19 - a prospective cohort study
Scand J Trauma Resusc Emerg Med, 28 (1), 66
DOI 10.1186/s13049-020-00764-3, PubMed 32660623
Dysregulation of MITF Leads to Transformation in MC1R-Defective Melanocytes
Cancers (Basel), 12 (7)
DOI 10.3390/cancers12071719, PubMed 32605315
Loss of Snord116 impacts lateral hypothalamus, sleep, and food-related behaviors
JCI Insight, 5 (12)
DOI 10.1172/jci.insight.137495, PubMed 32365348
Immune phenotype of tumor microenvironment predicts response to bevacizumab in neoadjuvant treatment of ER-positive breast cancer
Int J Cancer, 147 (9), 2515-2525
DOI 10.1002/ijc.33108, PubMed 32488909
Competitive learning suggests circulating miRNA profiles for cancers decades prior to diagnosis
RNA Biol, 17 (10), 1416-1426
DOI 10.1080/15476286.2020.1771945, PubMed 32456538
immuneSIM: tunable multi-feature simulation of B- and T-cell receptor repertoires for immunoinformatics benchmarking
Bioinformatics, 36 (11), 3594-3596
DOI 10.1093/bioinformatics/btaa158, PubMed 32154832
LXRα Regulates ChREBPα Transactivity in a Target Gene-Specific Manner through an Agonist-Modulated LBD-LID Interaction
Cells, 9 (5)
DOI 10.3390/cells9051214, PubMed 32414201
Mutational dynamics and immune evasion in diffuse large B-cell lymphoma explored in a relapse-enriched patient series
Blood Adv, 4 (9), 1859-1866
DOI 10.1182/bloodadvances.2019001325, PubMed 32374878
Patients with high-risk DLBCL benefit from dose-dense immunochemotherapy combined with early systemic CNS prophylaxis
Blood Adv, 4 (9), 1906-1915
DOI 10.1182/bloodadvances.2020001518, PubMed 32380536
Sex differences and higher upper normal limits for left atrial end-systolic volume in individuals in their mid-60s: data from the ACE 1950 Study
Eur Heart J Cardiovasc Imaging, 21 (5), 501-507
DOI 10.1093/ehjci/jeaa004, PubMed 32031593
Plasma linoleic acid levels and cardiovascular risk factors: results from the Norwegian ACE 1950 Study
Eur J Clin Nutr, 74 (12), 1707-1717
DOI 10.1038/s41430-020-0641-4, PubMed 32341488
Blood Pressure-Lowering Profiles and Clinical Effects of Angiotensin Receptor Blockers Versus Calcium Channel Blockers
Hypertension, 75 (6), 1584-1592
DOI 10.1161/HYPERTENSIONAHA.119.14443, PubMed 32336236
Tankyrase inhibition sensitizes melanoma to PD-1 immune checkpoint blockade in syngeneic mouse models
Commun Biol, 3 (1), 196
DOI 10.1038/s42003-020-0916-2, PubMed 32332858
Meal Regularity Plays a Role in Shaping the Saliva Microbiota
Front Microbiol, 11, 757
DOI 10.3389/fmicb.2020.00757, PubMed 32390990
Change in Body Weight and Long-Term Risk of Stroke and Death in Healthy Men
Stroke, 51 (5), 1435-1441
DOI 10.1161/STROKEAHA.119.027233, PubMed 32268850
Assessing graph-based read mappers against a baseline approach highlights strengths and weaknesses of current methods
BMC Genomics, 21 (1), 282
DOI 10.1186/s12864-020-6685-y, PubMed 32252628
DNA copy number motifs are strong and independent predictors of survival in breast cancer
Commun Biol, 3 (1), 153
DOI 10.1038/s42003-020-0884-6, PubMed 32242091
Author Correction: Human somatic cell mutagenesis creates genetically tractable sarcomas
Nat Genet, 52 (4), 464
DOI 10.1038/s41588-020-0589-2, PubMed 32094913
Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-D-phosphohexomutase superfamily
Sci Rep, 10 (1), 5656
DOI 10.1038/s41598-020-62548-0, PubMed 32221390
Molecularly matched therapy in the context of sensitivity, resistance, and safety; patient outcomes in end-stage cancer - the MetAction study
Acta Oncol, 59 (7), 733-740
DOI 10.1080/0284186X.2020.1742377, PubMed 32208873
NucBreak: location of structural errors in a genome assembly by using paired-end Illumina reads
BMC Bioinformatics, 21 (1), 66
DOI 10.1186/s12859-020-3414-0, PubMed 32085722
Correction: Møller, P.; et al. Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift. Cancers 2019, 11, 132
Cancers (Basel), 12 (2)
DOI 10.3390/cancers12020410, PubMed 32050665
B cell tolerance and antibody production to the celiac disease autoantigen transglutaminase 2
J Exp Med, 217 (2)
DOI 10.1084/jem.20190860, PubMed 31727780
Deep learning for prediction of colorectal cancer outcome: a discovery and validation study
Lancet, 395 (10221), 350-360
DOI 10.1016/S0140-6736(19)32998-8, PubMed 32007170
ScaR-a tool for sensitive detection of known fusion transcripts: establishing prevalence of fusions in testicular germ cell tumors
NAR Genom Bioinform, 2 (1), lqz025
DOI 10.1093/nargab/lqz025, PubMed 33575572
A 10-year prediagnostic follow-up study shows that serum RNA signals are highly dynamic in lung carcinogenesis
Mol Oncol, 14 (2), 235-247
DOI 10.1002/1878-0261.12620, PubMed 31851411
MirGeneDB 2.0: the metazoan microRNA complement
Nucleic Acids Res, 48 (D1), D1172
DOI 10.1093/nar/gkz1016, PubMed 31642479
MirGeneDB 2.0: the metazoan microRNA complement
Nucleic Acids Res, 48 (D1), D132-D141
DOI 10.1093/nar/gkz885, PubMed 31598695
Publications 2019
Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing
Sci Rep, 9 (1), 18555
DOI 10.1038/s41598-019-54517-z, PubMed 31811167
Prognostic value of mitotic checkpoint protein BUB3, cyclin B1, and pituitary tumor-transforming 1 expression in prostate cancer
Mod Pathol, 33 (5), 905-915
DOI 10.1038/s41379-019-0418-2, PubMed 31801961
Diagnostic Profiling of the Human Public IgM Repertoire With Scalable Mimotope Libraries
Front Immunol, 10, 2796
DOI 10.3389/fimmu.2019.02796, PubMed 31849974
Exercise Systolic Blood Pressure at Moderate Workload Is Linearly Associated With Coronary Disease Risk in Healthy Men
Hypertension, 75 (1), 44-50
DOI 10.1161/HYPERTENSIONAHA.119.13528, PubMed 31735088
Noninvasive Diagnosis of Adenomyosis: A Structured Review and Meta-analysis of Diagnostic Accuracy in Imaging
J Minim Invasive Gynecol, 27 (2), 408-418.e3
DOI 10.1016/j.jmig.2019.11.001, PubMed 31712162
PathTracer: High-sensitivity detection of differential pathway activity in tumours
Sci Rep, 9 (1), 16332
DOI 10.1038/s41598-019-52529-3, PubMed 31704995
GREM1 is associated with metastasis and predicts poor prognosis in ER-negative breast cancer patients
Cell Commun Signal, 17 (1), 140
DOI 10.1186/s12964-019-0467-7, PubMed 31694641
A High-Quality Assembly of the Nine-Spined Stickleback (Pungitius pungitius) Genome
Genome Biol Evol, 11 (11), 3291-3308
DOI 10.1093/gbe/evz240, PubMed 31687752
Lysosomal acid lipase does not have a propeptide and should not be considered being a proprotein
Proteins, 88 (3), 440-448
DOI 10.1002/prot.25821, PubMed 31587363
Computational approaches in cancer multidrug resistance research: Identification of potential biomarkers, drug targets and drug-target interactions
Drug Resist Updat, 48, 100662
DOI 10.1016/j.drup.2019.100662, PubMed 31927437
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
Hered Cancer Clin Pract, 17, 28
DOI 10.1186/s13053-019-0127-3, PubMed 31636762
Centralspindlin Recruits ALIX to the Midbody during Cytokinetic Abscission in Drosophila via a Mechanism Analogous to Virus Budding
Curr Biol, 29 (20), 3538-3548.e7
DOI 10.1016/j.cub.2019.09.025, PubMed 31607533
Interfocal heterogeneity challenges the clinical usefulness of molecular classification of primary prostate cancer
Sci Rep, 9 (1), 13579
DOI 10.1038/s41598-019-49964-7, PubMed 31537872
Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity
Hum Mol Genet, 28 (18), 3043-3052
DOI 10.1093/hmg/ddz114, PubMed 31131398
miRNA expression changes during the course of neoadjuvant bevacizumab and chemotherapy treatment in breast cancer
Mol Oncol, 13 (10), 2278-2296
DOI 10.1002/1878-0261.12561, PubMed 31402562
A map of direct TF-DNA interactions in the human genome
Nucleic Acids Res, 47 (14), 7715
DOI 10.1093/nar/gkz582, PubMed 31251803
A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries
Eur J Cancer, 119, 112-121
DOI 10.1016/j.ejca.2019.07.017, PubMed 31442815
Augmenting adaptive immunity: progress and challenges in the quantitative engineering and analysis of adaptive immune receptor repertoires
Mol. Syst. Des. Eng., 4 (4), 701-736
Transcriptional profiling of human intestinal plasma cells reveals effector functions beyond antibody production
United European Gastroenterol J, 7 (10), 1399-1407
DOI 10.1177/2050640619862461, PubMed 31839965
Total circulating cell-free DNA as a prognostic biomarker in metastatic colorectal cancer before first-line oxaliplatin-based chemotherapy
Ann Oncol, 30 (7), 1088-1095
DOI 10.1093/annonc/mdz139, PubMed 31046124
Diagnosing adenomyosis with MRI: a prospective study revisiting the junctional zone thickness cutoff of 12 mm as a diagnostic marker
Eur Radiol, 29 (12), 6971-6981
DOI 10.1007/s00330-019-06308-3, PubMed 31264010
The extracellular matrix proteoglycan lumican improves survival and counteracts cardiac dilatation and failure in mice subjected to pressure overload
Sci Rep, 9 (1), 9206
DOI 10.1038/s41598-019-45651-9, PubMed 31235849
Roadmap for a precision-medicine initiative in the Nordic region
Nat Genet, 51 (6), 924-930
DOI 10.1038/s41588-019-0391-1, PubMed 30988515
Determining cell type abundance and expression from bulk tissues with digital cytometry
Nat Biotechnol, 37 (7), 773-782
DOI 10.1038/s41587-019-0114-2, PubMed 31061481
Colocalization analyses of genomic elements: approaches, recommendations and challenges
Bioinformatics, 35 (9), 1615-1624
DOI 10.1093/bioinformatics/bty835, PubMed 30307532
SBP above 180 mmHg at moderate exercise workload increases coronary heart disease risk in healthy men during 28-year follow-up
J Hypertens, 37 (5), 949-955
DOI 10.1097/HJH.0000000000001959, PubMed 30325341
Circulating Secretoneurin Concentrations After Cardiac Surgery: Data From the FINNish Acute Kidney Injury Heart Study
Crit Care Med, 47 (5), e412-e419
DOI 10.1097/CCM.0000000000003670, PubMed 30730440
The immune microenvironment in non-small cell lung cancer is predictive of prognosis after surgery
Mol Oncol, 13 (5), 1166-1179
DOI 10.1002/1878-0261.12475, PubMed 30854794
Integrative genomic analysis of peritoneal malignant mesothelioma: understanding a case with extraordinary chemotherapy response
Cold Spring Harb Mol Case Stud, 5 (2)
DOI 10.1101/mcs.a003566, PubMed 30862609
Distinct phenotype of CD4+ T cells driving celiac disease identified in multiple autoimmune conditions
Nat Med, 25 (5), 734-737
DOI 10.1038/s41591-019-0403-9, PubMed 30911136
A clinico-molecular predictor identifies follicular lymphoma patients at risk of early transformation after first-line immunotherapy
Haematologica, 104 (10), e460-e464
DOI 10.3324/haematol.2018.209080, PubMed 30846496
A map of direct TF-DNA interactions in the human genome
Nucleic Acids Res, 47 (4), e21
DOI 10.1093/nar/gky1210, PubMed 30517703
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
Hered Cancer Clin Pract, 17, 8
DOI 10.1186/s13053-019-0106-8, PubMed 30858900
Responsiveness to PD-1 Blockade in End-Stage Colon Cancer with Gene Locus 9p24.1 Copy-Number Gain
Cancer Immunol Res, 7 (5), 701-706
DOI 10.1158/2326-6066.CIR-18-0777, PubMed 30804006
Graph Peak Caller: Calling ChIP-seq peaks on graph-based reference genomes
PLoS Comput Biol, 15 (2), e1006731
DOI 10.1371/journal.pcbi.1006731, PubMed 30779737
Long-term effects on survival after a 1-year multifactorial vascular risk factor intervention after stroke or TIA: secondary analysis of a randomized controlled trial, a 7-year follow-up study
Vasc Health Risk Manag, 15, 11-18
DOI 10.2147/VHRM.S191873, PubMed 30799926
Author Correction: Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors
Nat Commun, 10 (1), 525
DOI 10.1038/s41467-019-08512-7, PubMed 30692535
Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift
Cancers (Basel), 11 (2)
DOI 10.3390/cancers11020132, PubMed 30678073
Blood pressure variability in hypertensive patients with atrial fibrillation in the VALUE trial
Blood Press, 28 (2), 77-83
DOI 10.1080/08037051.2018.1524707, PubMed 30614275
Predictors for Favorable Cognitive Outcome Post-Stroke: A-Seven-Year Follow-Up Study
Dement Geriatr Cogn Disord, 48 (1-2), 45-55
DOI 10.1159/000501850, PubMed 31461703
Carotid Atherosclerosis and Cognitive Function in a General Population Aged 63-65 Years: Data from the Akershus Cardiac Examination (ACE) 1950 Study
J Alzheimers Dis, 70 (4), 1041-1049
DOI 10.3233/JAD-190327, PubMed 31306128