Mutation of the human genome ranges from single base-pair changes to whole-chromosome aneuploidy. Mutations are associated with a wide range of clinical problems, including cancer.
In the past, differential profiling and functional studies have been performed mainly using tissues samples collected by invasive methods. However, in a clinical setting, more convenient and non-invasive methods are required, such as collection of peripheral blood or other bodily fluids…
A chromosome abnormality, or mutation is a missing, extra, or irregular portion of chromosomal DNA. Mutation of the human genome ranges from single base-pair changes to whole-chromosome aneuploidy. The DNA sequence of a chromosome can be altered in a number of ways including: substitutions, insertion and deletions…
Genomic translocations frequently lead to the generation of gene fusions with oncogenic properties. RNA sequencing has allowed gene expression profiling and detection of previously unknown, alternatively spliced and gene fusion transcripts with potential oncogenic roles….
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