Bianchi M

Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases.

Bianchi M, Kozyrev SV, Notarnicola A, ..., Lindblad-Toh K, with the DISSECT consortium and the ImmunoArray consortium

Arthritis & rheumatology (Hoboken, N.J.) - (-) - [2024-09-16; online 2024-09-16]

NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

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]

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]

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]

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]

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]