Bowden J, Davey Smith G, Burgess S (2015) Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression. Int J Epidemiol 44:512–525

Article  PubMed  PubMed Central  Google Scholar 

Bowden J, Davey Smith G, Haycock PC, Burgess S (2016) Consistent estimation in Mendelian randomization with some invalid instruments using a weighted median estimator. Genet Epidemiol 40:304–314

Article  PubMed  PubMed Central  Google Scholar 

Burgess S, Butterworth A, Thompson SG (2013) Mendelian randomization analysis with multiple genetic variants using summarized data. Genet Epidemiol 37:658–665

Article  PubMed  PubMed Central  Google Scholar 

Cassius C, Amode R, Delord M, Battistella M, Poirot J, How-Kit A, Lepelletier C, Jachiet M, de Masson A, Frumholtz L, Cordoliani F, Boccara D, Lehmann-Che J, Wong J, Dubanchet S, Alberdi AJ, Merandet M, Bagot M, Bensussan A, Bouaziz JD, Le Buanec H (2020) MDA5(+) Dermatomyositis is associated with stronger skin type I interferon transcriptomic signature with upregulation of IFN-κ transcript. J Invest Dermatol 140(1276–1279):e7

Google Scholar 

Chen X, Lian D, Zeng H (2023) Single-cell profiling of peripheral blood and muscle cells reveals inflammatory features of juvenile dermatomyositis. Front Cell Dev Biol 11:1166017

Article  PubMed  PubMed Central  Google Scholar 

Collins FS, Brooks LD, Chakravarti A (1998) A DNA polymorphism discovery resource for research on human genetic variation. Genome Res 8:1229–1231

Article  CAS  PubMed  Google Scholar 

Cruz TD, Valdes AM, Santiago A, Frazer de Llado T, Raffel LJ, Zeidler A, Rotter JI, Erlich HA, Rewers M, Bugawan T, Noble JA (2004) DPB1 alleles are associated with type 1 diabetes susceptibility in multiple ethnic groups. Diabetes 53:2158–2163

Article  CAS  PubMed  Google Scholar 

Deakin CT, Bowes J, Rider LG, Miller FW, Pachman LM, Sanner H, Rouster-Stevens K, Mamyrova G, Curiel R, Feldman BM, Huber AM, Reed AM, Schmeling H, Cook CG, Marshall LR, Ll Wilkinson MG, Eyre S, Raychaudhuri S, Wedderburn LR (2022) Association with HLA-DRβ1 position 37 distinguishes juvenile dermatomyositis from adult-onset myositis. Hum Mol Genet 31:2471–2481

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gasparotto M, Franco C, Zanatta E, Ghirardello A, Zen M, Iaccarino L, Fabris B, Doria A, Gatto M (2023) The interferon in idiopathic inflammatory myopathies: different signatures and new therapeutic perspectives. A Literature Review Autoimmun Rev 22:103334

Article  CAS  PubMed  Google Scholar 

Hemani G, Zheng J, Elsworth B, Wade KH, Haberland V, Baird D, Laurin C, Burgess S, Bowden J, Langdon R, Tan VY, Yarmolinsky J, Shihab HA, Timpson NJ, Evans DM, Relton C, Martin RM, Davey Smith G, Gaunt TR, Haycock PC (2018) The MR-Base platform supports systematic causal inference across the human phenome. Elife 7:e34408

Iaccarino L, Ghirardello A, Bettio S, Zen M, Gatto M, Punzi L, Doria A (2014) The clinical features, diagnosis and classification of dermatomyositis. J Autoimmun 48–49:122–127

Article  PubMed  Google Scholar 

Imming P, Sinning C, Meyer A (2006) Drugs, their targets and the nature and number of drug targets. Nat Rev Drug Discov 5:821–834

Article  CAS  PubMed  Google Scholar 

Kang JB, Shen AZ, Sakaue S, Luo Y, Gurajala S, Nathan A, Rumker L, Aguiar VRC, Valencia C, Lagattuta K, Zhang F, Jonsson AH, Yazar S, Alquicira-Hernandez J, Khalili H, Ananthakrishnan AN, Jagadeesh K, Dey K, Daly MJ, Xavier RJ, Donlin LT, Anolik JH, Powell JE, Rao DA, Brenner MB, Gutierrez-Arcelus M, Raychaudhuri S (2023) Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution. Nat Genet 55(12):2255–2268

Li R, Zhang H, Tang F, Duan C, Liu D, Wu N, Zhang Y, Wang L, Mo X (2022) Coronary artery disease risk factors affected by RNA modification-related genetic variants. Front Cardiovasc Med 9:985121

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li Y, Zhang K, Chen H, Sun F, Xu J, Wu Z, Li P, Zhang L, Du Y, Luan H, Li X, Wu L, Li H, Wu H, Zhang X, Gong L, Dai L, Sun L, Zuo X, Gong H, Li Z, Tong S, Wu M, Xiao W, Wang G, Zhu P, Shen M, Liu S, Zhao D, Liu W, Wang Y, Huang C, Jiang Q, Liu G, Liu B, Hu S, Zhang W, Zhang Z, You X, Li M, Hao W, Zhao C, Leng X, Bi L, Zhang F, Shi Q, Qi W, Jia Y, Su J, Li Q, Hou Y, Wu Q, Xu D, Zheng W, Zhang M, Wang Q, Fei Y, Li J, Jiang Y, Tian X, Zhao L, Wang L, Zhou B, Zhao Y, Zeng X, Ott J, Wang J (2013) A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren’s syndrome at 7q11.23. Nat Genet 45:1361–1365

Article  CAS  PubMed  Google Scholar 

Lintner KE, Patwardhan A, Rider LG, Abdul-Aziz R, Wu YL, Lundström E, Padyukov L, Zhou B, Alhomosh A, Newsom D, White P, Jones KB, O’Hanlon TP, Miller FW, Spencer CH, Yu CY (2016) Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis. Ann Rheum Dis 75:1599–1606

Article  CAS  PubMed  Google Scholar 

Lloyd-Jones LR, Holloway A, McRae A, Yang J, Small K, Zhao J, Zeng B, Bakshi A, Metspalu A, Dermitzakis M, Gibson G, Spector T, Montgomery G, Esko T, Visscher PM, Powell JE (2017) The genetic architecture of gene expression in peripheral blood. Am J Hum Genet 100:228–237

Article  CAS  PubMed  PubMed Central  Google Scholar 

McGinnis CS, Murrow LM, Gartner ZJ (2019) DoubletFinder: doublet detection in single-cell RNA sequencing data using artificial nearest neighbors. Cell Syst 8(329–337):e4

Google Scholar 

Miller FW, Chen W, O’Hanlon TP, Cooper RG, Vencovsky J, Rider LG, Danko K, Wedderburn LR, Lundberg IE, Pachman LM, Reed AM, Ytterberg SR, Padyukov L, Selva-O’Callaghan A, Radstake TR, Isenberg DA, Chinoy H, Ollier WE, Scheet P, Peng B, Lee A, Byun J, Lamb JA, Gregersen PK, Amos CI (2015) Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes. Genes Immun 16:470–480

Article  CAS  PubMed  PubMed Central  Google Scholar 

Neely J, Hartoularos G, Bunis D, Sun Y, Lee D, Kim S, Ye CJ, Sirota M (2022) Multi-modal single-cell sequencing identifies cellular immunophenotypes associated with juvenile dermatomyositis disease activity. Front Immunol 13:902232

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nehar-Belaid D, Hong S, Marches R, Chen G, Bolisetty M, Baisch J, Walters L, Punaro M, Rossi RJ, Chung CH, Huynh RP, Singh P, Flynn WF, Tabanor-Gayle JA, Kuchipudi N, Mejias A, Collet MA, Lucido AL, Palucka K, Robson P, Lakshminarayanan S, Ramilo O, Wright T, Pascual V, Banchereau JF (2020) Mapping systemic lupus erythematosus heterogeneity at the single-cell level. Nat Immunol 21:1094–1106

Article  CAS  PubMed  PubMed Central  Google Scholar 

Noguchi E, Sakamoto H, Hirota T, Ochiai K, Imoto Y, Sakashita M, Kurosaka F, Akasawa A, Yoshihara S, Kanno N, Yamada Y, Shimojo N, Kohno Y, Suzuki Y, Kang MJ, Kwon JW, Hong SJ, Inoue K, Goto Y, Yamashita F, Asada T, Hirose H, Saito I, Fujieda S, Hizawa N, Sakamoto T, Masuko H, Nakamura Y, Nomura I, Tamari M, Arinami T, Yoshida T, Saito H, Matsumoto K (2011) Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations. PLoS Genet 7:e1002170

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ren J, Jiang C, Gao X, Liu Z, Yuan Z, Jin C, Wen L, Zhang Z, Xue Y, Yao X (2010) PhosSNP for systematic analysis of genetic polymorphisms that influence protein phosphorylation. Mol Cell Proteomics 9:623–634

Article  CAS  PubMed  Google Scholar 

Rinchai D, Altman MC, Konza O, Hässler S, Martina F, Toufiq M, Garand M, Kabeer BSA, Palucka K, Mejias A, Ramilo O, Bedognetti D, Mariotti-Ferrandiz E, Klatzmann D, Chaussabel D (2020) Definition of erythroid cell-positive blood transcriptome phenotypes associated with severe respiratory syncytial virus infection. Clin Transl Med 10:e244

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ryu GM, Song P, Kim KW, Oh KS, Park KJ, Kim JH (2009) Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases. Nucleic Acids Res 37:1297–1307

Article  CAS  PubMed  PubMed Central  Google Scholar 

Santos R, Ursu O, Gaulton A, Bento AP, Donadi RS, Bologa CG, Karlsson A, Al-Lazikani B, Hersey A, Oprea TI, Overington JP (2017) A comprehensive map of molecular drug targets. Nat Rev Drug Discov 16:19–34

Article  CAS  PubMed  Google Scholar 

Suhre K, Arnold M, Bhagwat AM, Cotton RJ, Engelke R, Raffler J, Sarwath H, Thareja G, Wahl A, DeLisle RK, Gold L, Pezer M, Lauc G, El-Din Selim MA, Mook-Kanamori DO, Al-Dous EK, Mohamoud YA, Malek J, Strauch K, Grallert H, Peters A, Kastenmuller G, Gieger C, Graumann J (2017) Connecting genetic risk to disease end points through the human blood plasma proteome. Nat Commun 8:14357

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sun BB, Maranville JC, Peters JE, Stacey D, Staley JR, Blackshaw J, Burgess S, Jiang T, Paige E, Surendran P, Oliver-Williams C, Kamat MA, Prins BP, Wilcox SK, Zimmerman ES, Chi A, Bansal N, Spain SL, Wood AM, Morrell NW, Bradley JR, Janjic N, Roberts DJ, Ouwehand WH, Todd JA, Soranzo N, Suhre K, Paul DS, Fox CS, Plenge RM, Danesh J, Runz H, Butterworth AS (2018) Genomic atlas of the human plasma proteome. Nature 558:73–79

Article  CAS  PubMed  PubMed Central