Abstract:
:Although bulk high-throughput genomic profiling studies have led to a significant increase in the understanding of cancer biology, there is increasing awareness that bulk profiling approaches do not completely elucidate tumor heterogeneity. Single-cell genomic profiling enables the distinction of tumor heterogeneity, and may improve clinical diagnosis through the identification and characterization of putative subclonal populations. In the present study, the challenges associated with a single-cell genomics profiling workflow for clinical diagnostics were investigated. Single-cell RNA-sequencing (RNA-seq) was performed on 20 cells from an acute myeloid leukemia bone marrow sample. Putative blasts were identified based on their gene expression profiles and principal component analysis was performed to identify outlier cells. Variant calling was performed on the single-cell RNA-seq data. The present pilot study demonstrates a proof of concept for clinical single-cell genomic profiling. The recognized limitations include significant stochastic RNA loss and the relatively low throughput of the current proposed platform. Although the results of the present study are promising, further technological advances and protocol optimization are necessary for single-cell genomic profiling to be clinically viable.
journal_name
Oncol Lettjournal_title
Oncology lettersauthors
Yan B,Hu Y,Ban KHK,Tiang Z,Ng C,Lee J,Tan W,Chiu L,Tan TW,Seah E,Ng CH,Chng WJ,Foo Rdoi
10.3892/ol.2017.5669subject
Has Abstractpub_date
2017-03-01 00:00:00pages
1625-1630issue
3eissn
1792-1074issn
1792-1082pii
OL-0-0-5669journal_volume
13pub_type
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