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.