Review
NGS genomic analysis of the TERT gene in acral-lentiginous (non-CSD) and superficial spreading (low-CSD) subtypes of melanoma: A critical review of possible flaws in genomic analysis
Author(s): Barcelos Denise*, Rodrigues M and Landman G
NGS technology is nowadays widely known to be a major ally in cancer
mutation research; however, analytical results and deep knowledge of its
stages still represent a formidable challenge. In this research, a genomic
analysis of the TERT gene in acral-lentiginous and superficial spreading
melanomas by NGS were performed in order to detect and evaluate variant
mutations, in addition, to discuss methods and resources that may ensure a more accurate quality control in the use of FFPE in NGS genetic
investigation. In this study, false variants c.3327delG (p.Gly1109fs) and c.
2259delG (p.Gly753fs) were found, both can serve as a complicating factor
during analysis. Furthermore, factors such as low DNA count and errors in
the alignment of short readings should be taken into consideration and
analyzed, as they might represent false variants. NGS data is prone to.. Read More»
DOI:
10.37532/pulhhr.23.7(2).1-5
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