Publikationer

A framework for sharing of clinical and genetic data for precision medicine applications

Elhussein, Ahmed; Baymuradov, Ulugbek; Elhadad, Noémie; Natarajan, Karthik et al.

Ingår i Nature Medicine, s. 3578-3589, 2024

• DOI för A framework for sharing of clinical and genetic data for precision medicine applications
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A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile

Lindelöf, Linnea; Rantapää-Dahlqvist, Solbritt; Lundtoft, Christian; Sandling, Johanna K. et al.

Ingår i Journal of Autoimmunity, 2024

• DOI för A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile
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Assessment of glial fibrillary acidic protein and anti‐glial fibrillary acidic protein autoantibody concentrations and necrotising meningoencephalitis risk genotype in dogs with pug dog myelopathy

Rohdin, Cecilia; Ljungvall, Ingrid; Jäderlund, Karin Hultin; Svensson, Anna et al.

Ingår i The Veterinary Record, 2024

• DOI för Assessment of glial fibrillary acidic protein and anti‐glial fibrillary acidic protein autoantibody concentrations and necrotising meningoencephalitis risk genotype in dogs with pug dog myelopathy
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Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma

Nilsson, Malin; Kozyrev, Sergey V.; Saellstrom, Sara; Johansson, Siri et al.

Ingår i Scientific Reports, 2024

• DOI för Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma
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Genome wide association study in Swedish Labrador retrievers identifies genetic loci associated with hip dysplasia and body weight

Kieler, Ida Nordang; Persson, Sofia Malm; Hagman, Ragnvi; Marinescu, Voichita et al.

Ingår i Scientific Reports, 2024

• DOI för Genome wide association study in Swedish Labrador retrievers identifies genetic loci associated with hip dysplasia and body weight
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Hemangiosarcoma Cells Promote Conserved Host-derived Hematopoietic Expansion

Kim, Jong Hyuk; Schulte, Ashley J.; Sarver, Aaron L.; Lee, Donghee et al.

Ingår i Cancer Research Communications, s. 1467-1480, 2024

• DOI för Hemangiosarcoma Cells Promote Conserved Host-derived Hematopoietic Expansion
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Identification of constrained sequence elements across 239 primate genomes

Kuderna, Lukas F. K.; Ulirsch, Jacob C.; Rashid, Sabrina; Ameen, Mohamed et al.

Ingår i Nature, s. 735-742, 2024

• DOI för Identification of constrained sequence elements across 239 primate genomes
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In sickness and health - a questionnaire based study regarding immune mediated diseases and neoplasia in Swedish Nova Scotia Duck Tolling Retrievers

Nilsson, Malin; Kozyrev, Sergey V.; Lindblad-Toh, Kerstin; Roennberg, Henrik et al.

Ingår i Acta Veterinaria Scandinavica, 2024

• DOI för In sickness and health - a questionnaire based study regarding immune mediated diseases and neoplasia in Swedish Nova Scotia Duck Tolling Retrievers
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The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population

Lundtoft, Christian; Knight, Ann; Meadows, Jennifer; Karlsson, Åsa et al.

Ingår i RMD Open, 2024

• DOI för The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population
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A genomic timescale for placental mammal evolution

Foley, Nicole M.; Mason, Victor C.; Harris, Andrew J.; Bredemeyer, Kevin R. et al.

Ingår i Science, s. 365-+, 2023

• DOI för A genomic timescale for placental mammal evolution

Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs

Lingaas, Frode; Tengvall, Katarina; Jansen, Johan Hogset; Pelander, Lena et al.

Ingår i PLOS Genetics, 2023

• DOI för Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs
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Chiropterans Are a Hotspot for Horizontal Transfer of DNA Transposons in Mammalia

Paulat, Nicole S.; Storer, Jessica M.; Moreno-Santillan, Diana D.; Osmanski, Austin B. et al.

Ingår i Molecular biology and evolution, 2023

• DOI för Chiropterans Are a Hotspot for Horizontal Transfer of DNA Transposons in Mammalia
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​Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs

Moon, Katherine L.; Huson, Heather J.; Morrill, Kathleen; Wang, Ming-Shan et al.

Ingår i Science, 2023

• DOI för ​Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs

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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Evolutionary constraint and innovation across hundreds of placental mammals

Christmas, Matthew; Kaplow, Irene M.; Genereux, Diane P.; Dong, Michael X. et al.

Ingår i Science, 2023

• DOI för Evolutionary constraint and innovation across hundreds of placental mammals

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture

Meadows, Jennifer; Kidd, Jeffrey M.; Wang, Guo-Dong; Parker, Heidi G. et al.

Ingår i Genome Biology, 2023

• DOI för Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture
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Integrating gene annotation with orthology inference at scale

Kirilenko, Bogdan M.; Munegowda, Chetan; Osipova, Ekaterina; Jebb, David et al.

Ingår i Science, s. 368-+, 2023

• DOI för Integrating gene annotation with orthology inference at scale

Leveraging base-pair mammalian constraint to understand genetic variation and human disease

Sullivan, Patrick F.; Meadows, Jennifer; Gazal, Steven; Phan, BaDoi N. et al.

Ingår i Science, s. 367-+, 2023

• DOI för Leveraging base-pair mammalian constraint to understand genetic variation and human disease

Mammalian evolution of human cis-regulatory elements and transcription factor binding sites

Andrews, Gregory; Fan, Kaili; Pratt, Henry E.; Phalke, Nishigandha et al.

Ingår i Science, 2023

• DOI för Mammalian evolution of human cis-regulatory elements and transcription factor binding sites

Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy

Brander, Gustaf; Rohdin, Cecilia; Bianchi, Matteo; Bergvall, Kerstin et al.

Ingår i Genes, 2023

• DOI för Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy
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PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia

Arendt, Maja Louise; Sakthikumar, Sharadha; Melin, Malin; Elvers, Ingegerd et al.

Ingår i Scientific Reports, 2023

• DOI för PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia
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Relating enhancer genetic variation across mammals to complex phenotypes using machine learning

Kaplow, Irene M.; Lawler, Alyssa J.; Schäffer, Daniel E.; Srinivasan, Chaitanya et al.

Ingår i Science, 2023

• DOI för Relating enhancer genetic variation across mammals to complex phenotypes using machine learning

Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease

Lundtoft, Christian; Eriksson, Daniel; Bianchi, Matteo; Aranda-Guillen, Maribel et al.

Ingår i European Journal of Endocrinology, s. 235-241, 2023

• DOI för Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease
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Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis

Ekman, Diana; Sennblad, Bengt; Knight, Ann; Karlsson, Åsa et al.

Ingår i Rheumatology, s. 3213-3218, 2023

• DOI för Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis
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The contribution of historical processes to contemporary extinction risk in placental mammals

Wilder, Aryn P.; Supple, Megan A.; Subramanian, Ayshwarya; Mudide, Anish et al.

Ingår i Science, 2023

• DOI för The contribution of historical processes to contemporary extinction risk in placental mammals

The functional and evolutionary impacts of human-specific deletions in conserved elements

Xue, James R.; Mackay-Smith, Ava; Mouri, Kousuke; Garcia, Meilin Fernandez et al.

Ingår i Science, 2023

• DOI för The functional and evolutionary impacts of human-specific deletions in conserved elements

Three-dimensional genome rewiring in loci with human accelerated regions

Keough, Kathleen C.; Whalen, Sean; Inoue, Fumitaka; Przytycki, Pawel F. et al.

Ingår i Science, 2023

• DOI för Three-dimensional genome rewiring in loci with human accelerated regions

Using evolutionary constraint to define novel candidate driver genes in medulloblastoma

Roy, Ananya; Sakthikumar, Sharadha; Kozyrev, Sergey V.; Nordin, Jessika et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2023

• DOI för Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
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Allele frequency spectrum of known ankylosing spondylitis associated variants in a Swedish population

Mathioudaki, Argyri; Nordin, Jessika; Kastbom, A.; Söderkvist, P. et al.

Ingår i Scandinavian Journal of Rheumatology, s. 21-24, 2022

• DOI för Allele frequency spectrum of known ankylosing spondylitis associated variants in a Swedish population
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Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis

Tengvall, Katarina; Sundström, Elisabeth; Wang, Chao; Bergvall, Kerstin et al.

Ingår i Communications Biology, 2022

• DOI för Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis
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Canine Oral Melanoma Genomic and Transcriptomic Study Defines Two Molecular Subgroups with Different Therapeutical Targets

Prouteau, Anais; Mottier, Stephanie; Primot, Aline; Cadieu, Edouard et al.

Ingår i Cancers, s. 276, 2022

• DOI för Canine Oral Melanoma Genomic and Transcriptomic Study Defines Two Molecular Subgroups with Different Therapeutical Targets
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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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Contribution of rare genetic variation to disease susceptibility in a large Scandinavian myositis cohort

Bianchi, Matteo; Kozyrev, Sergey V.; Notarnicola, Antonella; Hultin-Rosenberg, Lina et al.

Ingår i Arthritis & Rheumatology, s. 342-352, 2022

• DOI för Contribution of rare genetic variation to disease susceptibility in a large Scandinavian myositis cohort
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Evolution of the ancestral mammalian karyotype and syntenic regions

Damas, Joana; Corbo, Marco; Kim, Jaebum; Turner-Maier, Jason et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2022

• DOI för Evolution of the ancestral mammalian karyotype and syntenic regions
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Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease

Yavuz, Sule; Pucholt, Pascal; Sandling, Johanna K.; Bianchi, Matteo et al.

Ingår i Lupus Science and Medicine, 2022

• DOI för Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease
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Standards recommendations for the Earth BioGenome Project

Lawniczak, Mara K. N.; Durbin, Richard; Flicek, Paul; Lindblad-Toh, Kerstin et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2022

• DOI för Standards recommendations for the Earth BioGenome Project
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TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Brown, Anna-Leigh; Fratta, Pietro

Ingår i Nature, s. 131-137, 2022

• DOI för TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
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The Antarctic Weddell seal genome reveals evidence of selection on cardiovascular phenotype and lipid handling

Noh, Hyun Ji; Turner-Maier, Jason; Schulberg, S. Anne; Fitzgerald, Michael L. et al.

Ingår i Communications Biology, 2022

• DOI för The Antarctic Weddell seal genome reveals evidence of selection on cardiovascular phenotype and lipid handling
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The Earth BioGenome Project 2020: Starting the clock

Lewin, Harris A.; Richards, Stephen; Aiden, Erez Lieberman; Allende, Miguel L. et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2022

• DOI för The Earth BioGenome Project 2020: Starting the clock
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Why sequence all eukaryotes?

Blaxter, Mark; Archibald, John M.; Childers, Anna K.; Coddington, Jonathan A. et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2022

• DOI för Why sequence all eukaryotes?
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3D genomics across the tree of life reveals condensin II as a determinant of architecture type

Hoencamp, Claire; Dudchenko, Olga; Elbatsh, Ahmed M. O.; Brahmachari, Sumitabha et al.

Ingår i Science, s. 984-989, 2021

• DOI för 3D genomics across the tree of life reveals condensin II as a determinant of architecture type

A novel canine reference genome resolves genomic architecture and uncovers transcript complexity

Wang, Chao; Wallerman, Ola; Arendt, Maja-Louise; Sundström, Elisabeth et al.

Ingår i Communications Biology, 2021

• DOI för A novel canine reference genome resolves genomic architecture and uncovers transcript complexity
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Association of Protective HLA-A With HLA-B∗27 Positive Ankylosing Spondylitis

Nordin, Jessika; Pettersson, Mats; Hultin Rosenberg, Lina; Mathioudaki, Argyri et al.

Ingår i Frontiers in Genetics, 2021

• DOI för Association of Protective HLA-A With HLA-B∗27 Positive Ankylosing Spondylitis
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Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome

Thorlacius, Guðný Ella; Hultin-Rosenberg, Lina; Sandling, Johanna K.; Bianchi, Matteo et al.

Ingår i Rheumatology, s. 837-848, 2021

• DOI för Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome
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Genome-Wide Analyses for Osteosarcoma in Leonberger Dogs Reveal the CDKN2A/B Gene Locus as a Major Risk Locus

Letko, Anna; Minor, Katie M.; Norton, Elaine M.; Marinescu, Voichita et al.

Ingår i Genes, 2021

• DOI för Genome-Wide Analyses for Osteosarcoma in Leonberger Dogs Reveal the CDKN2A/B Gene Locus as a Major Risk Locus
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Genomically Complex Human Angiosarcoma and Canine Hemangiosarcoma Establish Convergent Angiogenic Transcriptional Programs Driven by Novel Gene Fusions

Kim, Jong Hyuk; Megquier, Kate; Thomas, Rachael; Sarver, Aaron L. et al.

Ingår i Molecular Cancer Research, s. 847-861, 2021

• DOI för Genomically Complex Human Angiosarcoma and Canine Hemangiosarcoma Establish Convergent Angiogenic Transcriptional Programs Driven by Novel Gene Fusions

How to make a rodent giant: Genomic basis and tradeoffs of gigantism in the capybara, the world's largest rodent

Herrera-Álvarez, Santiago; Karlsson, Elinor; Ryder, Oliver A; Lindblad-Toh, Kerstin et al.

Ingår i Molecular biology and evolution, s. 1715-1730, 2021

• DOI för How to make a rodent giant: Genomic basis and tradeoffs of gigantism in the capybara, the world's largest rodent
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Identification and Functional Characterization of a Novel Susceptibility Locus for Small Vessel Vasculitis with MPO-ANCA

Dahlqvist, Johanna; Ekman, Diana; Sennblad, Bengt; Kozyrev, Sergey V. et al.

Ingår i Rheumatology, s. 3461-3470, 2021

• DOI för Identification and Functional Characterization of a Novel Susceptibility Locus for Small Vessel Vasculitis with MPO-ANCA
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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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Roan, ticked and clear coat patterns in the canine are associated with three haplotypes near usherin on CFA38

Brancalion, L.; Haase, B.; Mazrier, H.; Willet, C. E. et al.

Ingår i Animal Genetics, s. 198-207, 2021

• DOI för Roan, ticked and clear coat patterns in the canine are associated with three haplotypes near usherin on CFA38
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