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. 2022 Jul 4;12:11260. doi: 10.1038/s41598-022-15003-1

Table 1.

Summary of public gene expression-based discovery and validation data sets used in the meta-analysis.

Disease category Accession# Reference Cases n cases n control Total samples Platform
Discovery
ICUAW GSE13205 Fredriksson49 Sepsis MODS 13 8 21 GPL570
ICUAW GSE53702 Langhans50 ICUAW 7 6 13 GPL5188
ICUAW GSE3307 Bakay51 ICUAW 5 13c 18c GPL96
Congenital GSE15090 Arashiro52 FSHD 5 5 10 GPL570
Congenital GSE18715 Voets a POLG1 6 12 18 GPL570
Congenital GSE36398ab Rahimov53 FSHD 8 16 24 GPL6244
Congenital GSE36398b Rahimov53 FSHD 10 8 18 GPL6244
Congenital GSE37084 Perfetti54 MMD 10 10 20 GPL5175
Congenital GSE26852 Tasca55 FSHD, dysferlinopathy 12 7 19 GPL6947
Congenital GSE47968 Nakamori56 FSHD, DM 23 8 31 GPL5188
Congenital GSE42806 Screen57 TMD 7 5 12 GPL570
Congenital GSE38417 Dorsey a DMD 16 6 22 GPL570
Congenital GSE38680b Palermo58 GSD II 9 10 19 GPL570
Congenital GSE11681 Saenz59 LGMD2A 10 10 20 GPL96
Congenital GSE12648 Eisenberg60 HIBM 10 10 20 GPL96
Congenital GSE6011 Pescatori61 DMD 23 14 37 GPL96
IM GSE48280 Surez-Calvet62 PM, IBM, DM 14 5 19 GPL6244
IM GSE3307 Bakay51 Juvenile DM 21 13c 34c GPL96
IM GSE1551 Greenberg63 DM 13 10 23 GPL96
IM GSE26852 Tasca55 PM, IM, DM 7 7 14 GPL6947
IM EMEXP2681 Bernasconi a DM, PM 8 7 15 GPL96
Immobility GSE45745 Barres64 Morbid obesity 5 6 11 GPL13667
Immobility GSE21496 Reich65 Unloading 7 7 14 GPL570
Immobility GSE5110 Urso66 Immobility 5 5 10 GPL570
Immobility GSE24215 Alibegovic67 Immobility 12 12 24 GPL6480
Immobility GSE104999 Rullman68 Immobility 12 12 24 GPL17692
Immobility GSE474 Park69 Morbid obesity 16 8 24 GPL96
Chronic GSE27536 Turan70 COPD 30 24 54 GPL570
Chronic GSE1786 Radom-Aizik71 COPD 12 12 24 GPL96
Chronic EMTAB3671 Kreiner72 PMR 12 12 24 GPL570
Total 348 288 636
Validation
ICUAW GSE78929 Walsh8 ICUAW 24 8 32 GPL10558
Congenital GSE13608 Bachinksi73 DMD, MMD 59 9 68 GPL570
Congenital GSE38680a Palermo58 GSD II 32 7 39 GPL570
Congenital GSE109178 Dadgar9 MD 42 6 48 GPL570
Congenital GSE3307 Bakay51 MD 66 13c 79c GPL570
Congenital GSE10760 Osborne74 FSHD 38 60 98 GPL96
IM GSE3112 Greenberg75 PM, IBM 29 11 40 GPL96
IM GSE39454 Zhu76 PM, IBM, NM 31 5 36 GPL570
Immobility GSE14901 Abadi30 Limb disuse (casting) 48 24 72 GPL570
Immobility GSE45462 Chen77 Limb disuse (casting) 16 16 32 GPL570
Chronic GSE34111 Gallagher78 Cancer 12 6 30 GPL570
Chronic GSE100281 Willis-Owen79 COPD 80 15 85 GPL11532
Total 477 180 657
Secondary validation
MND EMEXP3260 Pradat7 ALS 9 10 19 GPL96
MND GSE3307 Bakay51 ALS 9 13c 22c GPL96
CP GSE31243 Smith80 CP 20 20 40 GPL570
Total 38 43 81

IM inflammatory myositides, MMD myotonic muscular dystrophy, MD muscular dystrophies, DMD Duchene’s muscular dystrophy, FSHD fascioscapulohumoral muscular dystrophy, LGMD2A limb-girdle muscular dystrophy type 2A, HIBM heritable IBM, POLG1, MD, TMD tibial muscular dystrophy, IBM inclusion body myositis, DM diabetes mellitus, GSD II glycogen storage disease type II, also called Pompe disease, POLG1 mitochondrial DNA polymerase γ, ICUAW intensive care unit acquired weakness, MODS multi-organ dysfunction syndrome.

aNot published yet.

bDeltoid muscle samples removed as FSHD typically affects biceps.

cSame healthy controls used in subcohorts of GSE3307.