Abstracts from Plenary and Keynote Speakers

2018 Public Health Genomics  
Cancers are common diseases which are among the leading causes of death worldwide, and their incidence is increasing as the population ages. Individual cancers harbor a set of genetic aberrations that can be informative for identifying rational therapies. However, cancer genetic assessment to guide use of therapies has been limited to single biomarkers. Improvements in sequencing technologies and implementation of genome analysis tools have enabled clinicians to identify functional and/or
more » ... e-associated genomic variants. Although we have come close to getting an entire genome sequenced for $1000, cancer genome sequencing involves significant challenges including the quality and quantity of samples available, the data analysis and interpretation. There are ways to overcome most of these challenges and get meaningful data. For instance, increasing sequence depth can counter low sample purity and increased ploidy. Sequencing the ends of DNA library molecules can identify discordant pairs representing deletions, amplifications, inversions or translocations; therefore, paired-end reads have become a valuable strategy for cancer genomics. Furthermore, since most genetic abnormalities in cancer are somatic and not germ line, a comparison of a patient's matched "normal" genome is crucial to interpret the alterations identified through deep sequencing. Last but not least, combination of cloud-based and manufacturer installable analytic pipelines together with inclusion of RNA and protein information in conjunction with sequencing data are becoming critical in deciphering the molecular basis of disease providing rationale for targeted, personalized drug treatment. The objective of this talk is to review existing technologies including reversible terminator SBS, semiconductor-based SBS, single molecule RT sequencing, singlestrand DNA/RNA nanopore-based sequencing as well as to note emerging technologies. Examples of whole transcriptome analysis including non-coding RNA and whole genome amplification from isolated circulating tumor cells (CTC) in metastatic breast cancer (MBC) patients will illustrate applications of these technologies to deciphering the molecular basis of disease providing rationale for targeted, personalized drug treatment.
doi:10.1159/000493202 pmid:30219808 fatcat:s7jfdl2q5jhkrpwwotsfnw4tsa