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Publikationer

[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]
H. Yu et al., "Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis," eLIFE, vol. 12, 2024.
[3]
J. E. Mold et al., "Clonally heritable gene expression imparts a layer of diversity within cell types," Cell systems, vol. 15, no. 2, s. 149, 2024.
[4]
K. J. Westrin, W. W. Kretzschmar och O. Emanuelsson, "ClusTrast : a short read de novo transcript isoform assembler guided by clustered contigs," BMC Bioinformatics, vol. 25, no. 1, 2024.
[5]
L. Bergenstråhle, "Computational Models of Spatial Transcriptomes," Doktorsavhandling : KTH Royal Institute of Technology, TRITA-CBH-FOU, 2024:1, 2024.
[6]
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, s. 663-664, 2024.
[7]
A. Zhigulev et al., "Enhancer mutations modulate the severity of chemotherapy-induced myelosuppression," Life Science Alliance, vol. 7, no. 3, s. e202302244-e202302244, 2024.
[8]
P. Höjer, "Exploring human variations by droplet barcoding," Doktorsavhandling : KTH Royal Institute of Technology, TRITA-CBH-FOU, 2024:7, 2024.
[9]
P. Ståhl, "Gene expression of single cells mapped in tissue sections," Nature, vol. 625, no. 7993, s. 38-39, 2024.
[10]
T. Lappalainen et al., "Genetic and molecular architecture of complex traits," Cell, vol. 187, no. 5, s. 1059-1075, 2024.
[11]
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, s. 133-149, 2024.
[12]
J. Liang et al., "Mechanistic study of transcription factor Sox18 during heart development," General and Comparative Endocrinology, vol. 350, 2024.
[13]
R. Neethiraj et al., "nf-core/raredisease : a community driven opensource pipeline for raredisease diagnostics," European Journal of Human Genetics, vol. 32, s. 648-648, 2024.
[14]
G. S. Jeuken och L. Käll, "Pathway analysis through mutual information," Bioinformatics, vol. 40, no. 1, 2024.
[15]
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, s. 33-33, 2024.
[16]
J. Einson et al., "The impact of genetically controlled splicing on exon inclusion and protein structure," PLOS ONE, vol. 19, no. 3 March, 2024.
[17]
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.
[18]
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.
[19]
A. Jemt et al., "A community developed pipeline for rare disease diagnostics," European Journal of Human Genetics, vol. 31, s. 614-614, 2023.
[20]
F. Wiberg, "A new method to generate droplets for applied epigenomics," , 2023.
[21]
A. Sountoulidis et al., "A topographic atlas defines developmental origins of cell heterogeneity in the human embryonic lung," Nature Cell Biology, 2023.
[22]
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, s. 1496-1508, 2023.
[23]
L. Sikkema et al., "An integrated cell atlas of the lung in health and disease," Nature Medicine, vol. 29, no. 6, s. 1563-1577, 2023.
[24]
L. Massier et al., "An integrated single cell and spatial transcriptomic map of human white adipose tissue," Nature Communications, vol. 14, no. 1, 2023.
[25]
H. Yu et al., "Association of an estrogen-sensitive Pax1-Col11a1-Mmp3 signaling axis with adolescent idiopathic scoliosis.," (Manuskript).
[26]
M. Prager et al., "ASV portal : an interface to DNA-based biodiversity data in the Living Atlas," BMC Bioinformatics, vol. 24, no. 1, 2023.
[27]
P. Höjer et al., "BLR : a flexible pipeline for haplotype analysis of multiple linked-read technologies," Nucleic Acids Research, vol. 51, no. 22, s. 114-114, 2023.
[28]
S. Bonfiglio, A. Lyander och P. Ghia, "BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib," Blood Advances, vol. 7, no. 12, s. 2794-2806, 2023.
[29]
R. Mauron, "Chromatin accessibility analysis of spaceflight mouse brains using ArchR," , 2023.
[30]
E. Braun et al., "Comprehensive cell atlas of the first-trimester developing human brain," Science, vol. 382, no. 6667, s. 172-+, 2023.
[31]
S. Aktay, "Computational Pipeline for Analyses of Genome-Wide Nascent Transcription from PRO-seq Data," , 2023.
[32]
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, s. 381-394, 2023.
[33]
R. Neethiraj et al., "DeepVariant as a variant caller to diagnose rare diseases," European Journal of Human Genetics, vol. 31, s. 595-595, 2023.
[34]
S. Kolmodin Dahlberg och I. T. Hoffecker, "Developing a method for protein-based DNA microscopy," European Biophysics Journal, vol. 52, no. SUPPL 1, s. S190-S190, 2023.
[35]
Z. Andrusivova, "Development and application of spatial transcriptomics methods," Doktorsavhandling Stockholm : KTH Royal Institute of Technology, TRITA-CBH-FOU, 2023:34, 2023.
[36]
M. Zamboni och E. Llorens-Bobadilla, "Discovery and targeting of pathological cell states after spinal cord injury," Glia, vol. 71, s. E1103-E1103, 2023.
[37]
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.
[38]
K. L. Buschur et al., "Distinct COPD subtypes in former smokers revealed by gene network perturbation analysis," Respiratory Research, vol. 24, no. 1, 2023.
[39]
H. Sounart et al., "Dual spatially resolved transcriptomics for human host–pathogen colocalization studies in FFPE tissue sections," Genome Biology, vol. 24, no. 1, 2023.
[40]
L. von Berlin et al., "Early fate bias in neuroepithelial progenitors of hippocampal neurogenesis," Hippocampus, vol. 33, no. 4, s. 391-401, 2023.
[41]
A. Manzano et al., "Enhancing European capabilities for application of multi-omics studies in biology and biomedicine space research," iScience, vol. 26, no. 9, 2023.
[42]
M. Martorella et al., "Evaluation of noninvasive biospecimens for transcriptome studies," BMC Genomics, vol. 24, no. 1, 2023.
[43]
Y. Fan et al., "Expansion spatial transcriptomics," Nature Methods, vol. 20, no. 8, s. 1179-1182, 2023.
[44]
S. Wang et al., "Exploring the Role of the Ado Gene in Atopic Dermatitis," Acta Dermato-Venereologica, vol. 103, s. 42-43, 2023.
[45]
E. Iwaszkiewicz-Eggebrecht et al., "FAVIS : Fast and versatile protocol for nondestructive metabarcoding of bulk insect samples," PLOS ONE, vol. 18, no. 7, s. e0286272, 2023.
[46]
F. Rezayee et al., "Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia," Frontiers in Oncology, vol. 13, 2023.
[47]
J. Vasicek et al., "Finding haplotypic signatures in proteins," GigaScience, vol. 12, 2023.
[48]
J. Einson, T. Lappalainen och . et al., "Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants," Genetics, vol. 224, no. 4, 2023.
[49]
J. R.S. Meadows et al., "Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture," Genome Biology, vol. 24, no. 1, 2023.
[50]
I. Ul Hassan et al., "Genome-wide identification and spatiotemporal expression profiling of zinc finger SWIM domain-containing protein family genes," ZOOLOGICAL RESEARCH, vol. 44, no. 3, 2023.