Lindblad-Toh K

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Family name Lindblad-Toh
Given name K
Initials K
ORCID

ORCID 0000-0001-8338-0253
Affiliations Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Broad Institute of MIT and Harvard, Cambridge, MA, USA.

43 publications

PubMed DOI Crossref
Genetic Adaptation to Brackish Water and Spawning Season in European Cisco.
Deng Q, Goodall J, Bergenius Nord M, ..., Pettersson OV, Andersson L
Mol. Ecol. - (-) e70094 [2025-09-03; online 2025-09-03]
NGI Long read [Collaborative] NGI Other NGI Stockholm (Genomics Applications) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus.
Sayadi A, Sandling JK, Eloranta ML, ..., Rönnblom L, DISSECT Consortium
Lupus Sci Med 12 (1) - [2025-02-11; online 2025-02-11]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Identification of constrained sequence elements across 239 primate genomes.
Kuderna LFK, Ulirsch JC, Rashid S, ..., Marques Bonet T, Farh KK
Nature - (-) - [2023-11-29; online 2023-11-29]
Bioinformatics Support for Computational Resources [Service]
PubMed DOI Crossref
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture.
Meadows JRS, Kidd JM, Wang G, ..., Zhang Y, Ostrander EA
Genome Biol. 24 (1) 187 [2023-08-15; online 2023-08-15]
Bioinformatics Support for Computational Resources [Service]
PubMed DOI Crossref
Integrating gene annotation with orthology inference at scale.
Kirilenko BM, Munegowda C, Osipova E, ..., Zoonomia Consortium‡ , Hiller M
Science 380 (6643) eabn3107 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The functional and evolutionary impacts of human-specific deletions in conserved elements.
Xue JR, Mackay-Smith A, Mouri K, ..., Sabeti PC, Reilly SK
Science 380 (6643) eabn2253 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Insights into mammalian TE diversity through the curation of 248 genome assemblies.
Osmanski AB, Paulat NS, Korstian J, ..., Lindblad-Toh K, Ray DA
Science 380 (6643) eabn1430 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The contribution of historical processes to contemporary extinction risk in placental mammals.
Wilder AP, Supple MA, Subramanian A, ..., Ryder OA, Shapiro B
Science 380 (6643) eabn5856 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A genomic timescale for placental mammal evolution.
Foley NM, Mason VC, Harris AJ, ..., Springer MS, Murphy WJ
Science 380 (6643) eabl8189 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Leveraging base-pair mammalian constraint to understand genetic variation and human disease.
Sullivan PF, Meadows JRS, Gazal S, ..., Karlsson EK, Lindblad-Toh K
Science 380 (6643) eabn2937 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Three-dimensional genome rewiring in loci with human accelerated regions.
Keough KC, Whalen S, Inoue F, ..., Pollen A, Pollard KS
Science 380 (6643) eabm1696 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
​Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs.
Moon KL, Huson HJ, Morrill K, ..., Karlsson EK, Shapiro B
Science 380 (6643) eabn5887 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Relating enhancer genetic variation across mammals to complex phenotypes using machine learning.
Kaplow IM, Lawler AJ, Schäffer DE, ..., Meyer WK, Pfenning AR
Science 380 (6643) eabm7993 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Mammalian evolution of human cis-regulatory elements and transcription factor binding sites.
Andrews G, Fan K, Pratt HE, ..., Moore JE, Weng Z
Science 380 (6643) eabn7930 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Evolutionary constraint and innovation across hundreds of placental mammals.
Christmas MJ, Kaplow IM, Genereux DP, ..., Lindblad-Toh K, Karlsson EK
Science 380 (6643) eabn3943 [2023-04-28; online 2023-04-28]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis.
Tengvall K, Sundström E, Wang C, ..., Andersson G, Lindblad-Toh K
Commun Biol 5 (1) 1348 [2022-12-08; online 2022-12-08]
Bioinformatics (NBIS) [Service] Bioinformatics Long-term Support WABI [Service] Bioinformatics Support, Infrastructure and Training [Service]
PubMed DOI Crossref
Contribution of Rare Genetic Variation to Disease Susceptibility in a Large Scandinavian Myositis Cohort.
Bianchi M, Kozyrev SV, Notarnicola A, ..., Lindblad-Toh K, Lundberg IE
Arthritis & rheumatology (Hoboken, N.J.) 74 (2) 342-352 [2022-02-00; online 2021-12-23]
Bioinformatics Support for Computational Resources [Service]
PubMed DOI Crossref
Standards recommendations for the Earth BioGenome Project.
Lawniczak MKN, Durbin R, Flicek P, ..., Lewin HA, Richards S
Proc. Natl. Acad. Sci. U.S.A. 119 (4) - [2022-01-25; online 2022-01-20]
NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
How to Make a Rodent Giant: Genomic Basis and Tradeoffs of Gigantism in the Capybara, the World's Largest Rodent.
Herrera-Álvarez S, Karlsson E, Ryder OA, Lindblad-Toh K, Crawford AJ
Mol. Biol. Evol. 38 (5) 1715-1730 [2021-05-04; online 2020-11-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A novel canine reference genome resolves genomic architecture and uncovers transcript complexity.
Wang C, Wallerman O, Arendt ML, ..., Meadows JRS, Lindblad-Toh K
Commun Biol 4 (1) 185 [2021-02-10; online 2021-02-10]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.
Sandling JK, Pucholt P, Hultin Rosenberg L, ..., Lindblad-Toh K, Rönnblom L
Ann. Rheum. Dis. 80 (1) 109-117 [2021-01-00; online 2020-10-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort.
Mathioudaki A, Ljungström V, Melin M, ..., Sjöblom T, Lindblad-Toh K
Sci Rep 10 (1) 19304 [2020-11-09; online 2020-11-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Toll-like receptors revisited; a possible role for TLR1 in lupus nephritis.
Yavuz S, Bianchi M, Kozyrev S, ..., Lindblad-Toh K, Rönnblom L
Ann. Rheum. Dis. 80 (3) 404-406 [2020-09-29; online 2020-09-29]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptomes from German shepherd dogs reveal differences in immune activity between atopic dermatitis affected and control skin.
Tengvall K, Bergvall K, Olsson M, ..., Lindblad-Toh K, Andersson G
Immunogenetics 72 (5) 315-323 [2020-07-00; online 2020-06-18]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes.
Sakthikumar S, Roy A, Haseeb L, ..., Lindblad-Toh K, Forsberg-Nilsson K
Genome Biol. 21 (1) 127 [2020-06-09; online 2020-06-09]
Bioinformatics (NBIS) [Service] Bioinformatics Long-term Support WABI [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes.
Nordin J, Ameur A, Lindblad-Toh K, Gyllensten U, Meadows JRS
Eur. J. Hum. Genet. 28 (5) 627-635 [2020-05-00; online 2019-12-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs.
Bianchi M, Rafati N, Karlsson Å, ..., Lindblad-Toh K, Rosengren Pielberg G
BMC Genomics 21 (1) 307 [2020-04-16; online 2020-04-16]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.
Farias FHG, Dahlqvist J, Kozyrev SV, ..., Rönnblom L, Lindblad-Toh K
Eur. J. Hum. Genet. 27 (3) 432-441 [2019-03-00; online 2018-11-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.
Eriksson D, Bianchi M, Landegren N, ..., Rosengren Pielberg G, Kämpe O
Sci Rep 8 (1) 8395 [2018-05-30; online 2018-05-30]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
ILF2 and ILF3 are autoantigens in canine systemic autoimmune disease.
Bremer HD, Landegren N, Sjöberg R, ..., Kämpe O, Hansson-Hamlin H
Sci Rep 8 (1) 4852 [2018-03-19; online 2018-03-19]
Autoimmunity and Serology Profiling [Service] Bioinformatics Support for Computational Resources [Service]
PubMed DOI Crossref
Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1
Eriksson D, Dalin F, Eriksson GN, ..., Munoz KD, None
J. Clin. Endocrinol. Metab. 103 (1) 179-186 [2018-01-01; online 2017-10-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease.
Eriksson D, Bianchi M, Landegren N, ..., Kämpe O, Pielberg GR
J. Intern. Med. 280 (6) 595-608 [2016-12-00; online 2016-11-02]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy.
Ivansson EL, Megquier K, Kozyrev SV, ..., Coates JR, Lindblad-Toh K
Proc. Natl. Acad. Sci. U.S.A. 113 (22) E3091-E3100 [2016-05-31; online 2016-05-18]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Utilizing the Dog Genome in the Search for Novel Candidate Genes Involved in Glioma Development-Genome Wide Association Mapping followed by Targeted Massive Parallel Sequencing Identifies a Strongly Associated Locus.
Truvé K, Dickinson P, Xiong A, ..., Bannasch D, Lindblad-Toh K
PLoS Genet. 12 (5) e1006000 [2016-05-00; online 2016-05-12]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses.
Imsland F, McGowan K, Rubin CJ, ..., Barsh GS, Andersson L
Nat. Genet. 48 (2) 152-158 [2016-02-00; online 2015-12-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease.
Wilbe M, Kozyrev SV, Farias FH, ..., Hansson-Hamlin H, Lindblad-Toh K
PLoS Genet. 11 (6) e1005248 [2015-06-00; online 2015-06-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Rabbit genome analysis reveals a polygenic basis for phenotypic change during domestication.
Carneiro M, Rubin CJ, Di Palma F, ..., Lindblad-Toh K, Andersson L
Science 345 (6200) 1074-1079 [2014-08-29; online 2014-08-30]
Bioinformatics Support for Computational Resources NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B.
Karlsson EK, Sigurdsson S, Ivansson E, ..., Breen M, Lindblad-Toh K
Genome Biol. 14 (12) R132 [2013-12-12; online 2013-12-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide analysis in German shepherd dogs reveals association of a locus on CFA 27 with atopic dermatitis.
Tengvall K, Kierczak M, Bergvall K, ..., Hedhammar Å, Lindblad-Toh K
PLoS Genet. 9 (5) e1003475 [2013-05-00; online 2013-05-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
The genomic signature of dog domestication reveals adaptation to a starch-rich diet.
Axelsson E, Ratnakumar A, Arendt M, ..., Hedhammar A, Lindblad-Toh K
Nature 495 (7441) 360-364 [2013-03-21; online 2013-01-29]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs.
Olsson M, Meadows JRS, Truvé K, ..., Tintle L, Lindblad-Toh K
PLoS Genet. 7 (3) e1001332 [2011-03-00; online 2011-03-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery.
Kiialainen A, Karlberg O, Ahlford A, ..., Lindblad-Toh K, Syvänen AC
PLoS ONE 6 (2) e16486 [2011-02-09; online 2011-02-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Whole-genome resequencing reveals loci under selection during chicken domestication.
Rubin C, Zody MC, Eriksson J, ..., Lindblad-Toh K, Andersson L
Nature 464 (7288) 587-591 [2010-03-25; online 2010-03-12]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
SciLifeLab Data Centre
Publications 9.5.1