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| Recent NGS-based studies in cancer | |||
| Cancer | Experiment Design | Description | ref |
| Colon cancer | 72 WES, 68 RNA-seq, 2 WGS | Identify multiple gene fusions such as RSPO2 and RSPO3 from RNA-seq that may function in tumorigenesis | [15] |
| Breast cancer | 65 WGS/WES, 80 RNA-seq | 36% of the mutations found in the study were expressed. Identify the abundance of clonal frequencies in an epithelial tumor subtype | [11] |
| Hepatocellular carcinoma | 1 WGS, 1 WES | Identify TSC1 nonsense substitution in subpopulation of tumor cells, intra-tumor heterogeneity, several chromosomal rearrangements, and patterns in somatic substitutions | [17] |
| Breast cancer | 510 WES | Identify two novel protein-expression-defined subgroups and novel subtype-associated mutations | [5] |
| Colon and rectal cancer | 224 WES, 97 WGS | 24 genes were found to be significantly mutated in both cancers. Similar patterns in genomic alterations were found in colon and rectum cancers | [14] |
| squamous cell lung cancer | 178 WES, 19 WGS, 178 RNA-seq, 158 miRNA-seq | Identify significantly altered pathways including NFE2L2 and KEAP1 and potential therapeutic targets | [16] |
| Ovarian carcinoma | 316 WES | Discover that most high-grade serous ovarian cancer contain TP53 mutations and recurrent somatic mutations in 9 genes | [13] |
| Melanoma | 25 WGS | Identify a significantly mutated gene, PREX2 and obtain a comprehensive genomic view of melanoma | [20] |
| Acute myeloid leukemia | 8 WGS | Identify mutations in relapsed genome and compare it to primary tumor. Discover two major clonal evolution patterns | [21] |
| Breast cancer | 24 WGS | Highlights the diversity of somatic rearrangements and analyzes rearrangement patterns related to DNA maintenance | [8] |
| Breast cancer | 31 WES, 46 WGS | Identify eighteen significant mutated genes and correlate clinical features of oestrogen-receptor-positive breast cancer with somatic alterations | [7] |
| Breast cancer | 103 WES, 17 WGS | Identify recurrent mutation in CBFB transcription factor gene and deletion of RUNX1. Also found recurrent MAGI3-AKT3 fusion in triple-negative breast cancer | [6] |
| Breast cancer | 100 WES | Identify somatic copy number changes and mutations in the coding exons. Found new driver mutations in a few cancer genes | [9] |
| Acute myeloid leukemia | 24 WGS | Discover that most mutations in AML genomes are caused by random events in hematopoietic stem/progenitor cells and not by an initiating mutation | [22] |
| Breast cancer | 21 WGS | Depict the life history of breast cancer using algorithms and sequencing technologies to analyze subclonal diversification | [12] |
| Head and neck squamous cell carcinoma | 32 WES | Identify mutation in NOTCH1 that may function as an oncogene | [19] |
| Renal carcinoma | 30 WES | Examine intra-tumor heterogeneity reveal branch evolutionary tumor growth | |