Publications
[1]
M. Latz et al.,
"A comprehensive dataset on spatiotemporal variation of microbial plankton communities in the Baltic Sea,"
Scientific Data, vol. 11, no. 1, 2024.
[2]
K. Fegraeus et al.,
"An endothelial regulatory module links blood pressure regulation with elite athletic performance,"
PLOS Genetics, vol. 20, no. 6, 2024.
[3]
H. Yu et al.,
"Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis,"
eLIFE, vol. 12, 2024.
[4]
L. F. Delgado,
"Bioinformatics for microbiome analysis,"
Doctoral thesis : KTH Royal Institute of Technology, TRITA-CBH-FOU, 2024:26, 2024.
[5]
J. E. Mold et al.,
"Clonally heritable gene expression imparts a layer of diversity within cell types,"
Cell systems, vol. 15, no. 2, pp. 149, 2024.
[6]
K. J. Westrin, W. W. Kretzschmar and O. Emanuelsson,
"ClusTrast : a short read de novo transcript isoform assembler guided by clustered contigs,"
BMC Bioinformatics, vol. 25, no. 1, 2024.
[7]
I. Ofverholm et al.,
"Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma,"
Clinical Cancer Research, vol. 30, no. 12, pp. 2647-2658, 2024.
[8]
L. Bergenstråhle,
"Computational Models of Spatial Transcriptomes,"
Doctoral thesis : KTH Royal Institute of Technology, TRITA-CBH-FOU, 2024:1, 2024.
[9]
D. J. Riedinger et al.,
"Control of Vibrio vulnificus proliferation in the Baltic Sea through eutrophication and algal bloom management,"
Communications Earth & Environment, vol. 5, no. 1, 2024.
[10]
N. Rinne et al.,
"Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and NRSN1 are associated with brain function in fluently reading adolescents and young adults,"
Cerebral Cortex, vol. 34, no. 4, 2024.
[11]
B. Tesi, V. Wirta and A. Nordgren,
"Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors - a nationwide, prospective Swedish study,"
The Lancet Regional Health : Europe, vol. 39, 2024.
[12]
[13]
V. Janvid et al.,
"Enabling large-scale clinical sequencing through the automation of bioinformatic workflows and data management,"
European Journal of Human Genetics, vol. 32, pp. 663-664, 2024.
[14]
A. Zhigulev et al.,
"Enhancer mutations modulate the severity of chemotherapy-induced myelosuppression,"
Life Science Alliance, vol. 7, no. 3, pp. e202302244-e202302244, 2024.
[15]
P. Höjer,
"Exploring human variations by droplet barcoding,"
Doctoral thesis : KTH Royal Institute of Technology, TRITA-CBH-FOU, 2024:7, 2024.
[16]
P. Ståhl,
"Gene expression of single cells mapped in tissue sections,"
Nature, vol. 625, no. 7993, pp. 38-39, 2024.
[17]
T. Lappalainen et al.,
"Genetic and molecular architecture of complex traits,"
Cell, vol. 187, no. 5, pp. 1059-1075, 2024.
[18]
S. Kasela et al.,
"Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects,"
American Journal of Human Genetics, vol. 111, no. 1, pp. 133-149, 2024.
[19]
J. Liang et al.,
"Mechanistic study of transcription factor Sox18 during heart development,"
General and Comparative Endocrinology, vol. 350, 2024.
[20]
R. Neethiraj et al.,
"nf-core/raredisease : a community driven opensource pipeline for raredisease diagnostics,"
European Journal of Human Genetics, vol. 32, pp. 648-648, 2024.
[21]
A. Lyander et al.,
"NGS method for parallel processing of high quality, damaged or fragmented input material using target enrichment,"
PLOS ONE, vol. 19, no. 5 May, 2024.
[22]
G. S. Jeuken and L. Käll,
"Pathway analysis through mutual information,"
Bioinformatics, vol. 40, no. 1, 2024.
[23]
K. L. Buschur et al.,
"Peripheral Blood Mononuclear Cell Gene Expression Associated with Pulmonary Microvascular Perfusion: The Multi-Ethnic Study of Atherosclerosis Chronic Obstructive Pulmonary Disease,"
Annals of the American Thoracic Society, vol. 21, no. 6, pp. 884-894, 2024.
[24]
J. Freestone et al.,
"Semi-supervised Learning While Controlling the FDR with an Application to Tandem Mass Spectrometry Analysis,"
in Research in Computational Molecular Biology - 28th Annual International Conference, RECOMB 2024, Proceedings, 2024, pp. 448-453.
[25]
L. Kvastad et al.,
"Spatial transcriptomics data identifies disease-relevant tissue structures from genetically implicated GWAS genes and drug targets,"
European Journal of Human Genetics, vol. 32, pp. 33-33, 2024.
[26]
Y. Masarapu et al.,
"Spatially resolved multiomics on the neuronal effects induced by spaceflight in mice,"
Nature Communications, vol. 15, no. 1, 2024.
[27]
L. J.A. van Dijk et al.,
"Temperature and water availability drive insect seasonality across a temperate and a tropical region,"
Proceedings of the Royal Society of London. Biological Sciences, vol. 291, no. 2025, 2024.
[28]
J. Einson et al.,
"The impact of genetically controlled splicing on exon inclusion and protein structure,"
PLOS ONE, vol. 19, no. 3 March, 2024.
[29]
V. Grujčić et al.,
"Towards high-throughput parallel imaging and single-cell transcriptomics of microbial eukaryotic plankton,"
PLOS ONE, vol. 19, no. 1 January, 2024.
[30]
P. Llinàs-Arias et al.,
"3-D chromatin conformation, accessibility, and gene expression profiling of triple-negative breast cancer,"
BMC Genomic Data, vol. 24, no. 1, 2023.
[31]
A. Jemt et al.,
"A community developed pipeline for rare disease diagnostics,"
European Journal of Human Genetics, vol. 31, pp. 614-614, 2023.
[32]
[33]
A. Sountoulidis et al.,
"A topographic atlas defines developmental origins of cell heterogeneity in the human embryonic lung,"
Nature Cell Biology, 2023.
[34]
M. Singer-Berk et al.,
"Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data,"
American Journal of Human Genetics, vol. 110, no. 9, pp. 1496-1508, 2023.
[35]
L. Sikkema et al.,
"An integrated cell atlas of the lung in health and disease,"
Nature Medicine, vol. 29, no. 6, pp. 1563-1577, 2023.
[36]
L. Massier et al.,
"An integrated single cell and spatial transcriptomic map of human white adipose tissue,"
Nature Communications, vol. 14, no. 1, 2023.
[37]
H. Yu et al.,
"Association of an estrogen-sensitive Pax1-Col11a1-Mmp3 signaling axis with adolescent idiopathic scoliosis.,"
(Manuscript).
[38]
M. Prager et al.,
"ASV portal : an interface to DNA-based biodiversity data in the Living Atlas,"
BMC Bioinformatics, vol. 24, no. 1, 2023.
[39]
P. Höjer et al.,
"BLR : a flexible pipeline for haplotype analysis of multiple linked-read technologies,"
Nucleic Acids Research, vol. 51, no. 22, pp. 114-114, 2023.
[40]
S. Bonfiglio, A. Lyander and P. Ghia,
"BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib,"
Blood Advances, vol. 7, no. 12, pp. 2794-2806, 2023.
[41]
[42]
E. Braun et al.,
"Comprehensive cell atlas of the first-trimester developing human brain,"
Science, vol. 382, no. 6667, pp. 172-+, 2023.
[43]
[44]
J. Rájová et al.,
"Deconvolution of spatial sequencing provides accurate characterization of hESC-derived DA transplants in vivo,"
Molecular therapy. Methods & clinical development, vol. 29, pp. 381-394, 2023.
[45]
R. Neethiraj et al.,
"DeepVariant as a variant caller to diagnose rare diseases,"
European Journal of Human Genetics, vol. 31, pp. 595-595, 2023.
[46]
S. Kolmodin Dahlberg and I. T. Hoffecker,
"Developing a method for protein-based DNA microscopy,"
European Biophysics Journal, vol. 52, no. SUPPL 1, pp. S190-S190, 2023.
[47]
Z. Andrusivova,
"Development and application of spatial transcriptomics methods,"
Doctoral thesis Stockholm : KTH Royal Institute of Technology, TRITA-CBH-FOU, 2023:34, 2023.
[48]
E. Wadensten, V. Wirta and D. Gisselsson,
"Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer,"
JCO Precision Oncology (JCO PO), vol. 7, 2023.
[49]
M. Zamboni and E. Llorens-Bobadilla,
"Discovery and targeting of pathological cell states after spinal cord injury,"
Glia, vol. 71, pp. E1103-E1103, 2023.
[50]
J. A. Morris et al.,
"Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens,"
Science, vol. 380, no. 6646, 2023.