Table 2.
Summary of published uLMS patient cohorts for genomic/genetic analysis.
| Cohort | n | Sequencing (How Many, What Type, Who Analysed/Reported) |
|---|---|---|
| MSKCC | 128 |
n = 80 exon capture [60,75] n = 121 exon capture [76] |
| Cuppens | 62 |
n = 2 WGS [77] n = 62 SNP array [77] |
| Yale | 55 |
n = 11 WGS [78] n = 55 WES, RNA-Seq [78] |
| MSK/Genie | 51 | n = 51 exon-targeted seq [75] |
| Dana-Faber | 39 | n = 39 exon-targeted seq [75] |
| OSU | 34 | n = 35 FoundationOne panel test [59] |
| TCGA | 31 |
n = 10 WGS [78,79] n = 27 WES, RNA-Seq [59,78,79] n = 31 exon-targeted seq [75] |
| Helsinki | 19 | n = 19 WES [80] |
| Chudasama | 10 | n = 10 WES [81] |
| U Mich | 8 | n = 8 exon-targeted seq [75] |
| Vanderbilt | 7 | n = 7 exon-targeted seq [75] |
| Spain | 44 | n = 44 WES, RNA-Seq [82] |
WGS, whole-genome sequencing; SNP, single nucleotide polymorphism; WES, whole-exome sequencing.