Yves Rozenholc,
Professor,
University of Paris Descartes
Yves Rozenholc is Professor of Statistics and Biostatistics at the Faculty of Pharmacy of the University Paris Descartes in Paris (France) and was organizer of the school « Tumoral Genome Analysis » in France. From theoretical background, he turns his interest more than 10 years ago into application of statistics mostly for cancer research to build biomarkers coming from imaging or genomic. He has now about 70 publications in both theoretical and applied scientific journals with about 1000 citations. Since now 4 years, he has focused on the analysis of cell-free DNA for both cancer and non-invasive prenatal tests. In the context of tumoral cell-free analysis with Pierre Laurent-Puig and Nicolas Pécuchet, he recently developed the tool PlasmaMutationDetector publically available on the CRAN to detect and quantify rare allele mutations using next-generation sequencing to replace the need for a tumor biopsy.
Liquid Biopsy: Screening for Single Nucleotide Variants and Indels From Cell-Free Tumoral DNA
Wednesday, 24 October 2018 at 14:30
Add to Calendar ▼2018-10-24 14:30:002018-10-24 15:30:00Europe/LondonLiquid Biopsy: Screening for Single Nucleotide Variants and Indels From Cell-Free Tumoral DNAExosomes and Liquid Biopsies Europe 2018 in Rotterdam, The NetherlandsRotterdam, The NetherlandsSELECTBIOenquiries@selectbiosciences.com
Analyzing circulating free DNA from blood sample of patient known to have a cancer may help to build a precise picture of the tumoral mutations driving the carcinogenesis process, which can be used as input of a personalized treatment and offers the opportunity to realize a precise follow-up of patient under treatment. However, detecting single-nucleotide variations and insertions/deletions in circulating tumor DNA is challenging because of their low allele frequency. Based on quantification of error rate at each base position [position error rate (PER)], I will present a screening tool called PlasmaMutationDetector, which allows to identify mutations as the result of a statistical test comparing minor-allele frequency to measured PER at each base position. The method is based on a non-optimized commercial kit and allows actually the screening of about 20000 mutations (SNV and INDEL) potentially occurring along several oncogenes. It shows excellent sensibility and specificity and allows detection when minimal mutated allele frequencies is as low as 0.3% for single-nucleotide variations and 0.1% for insertions/deletions. During this presentation, to help adaptation of this method to other oncogenes and/or other NGS techniques, I will present the main technical steps, which allow to deal with multiplicity, hotspot and PER estimation.
Add to Calendar ▼2018-10-24 00:00:002018-10-26 00:00:00Europe/LondonExosomes and Liquid Biopsies Europe 2018Exosomes and Liquid Biopsies Europe 2018 in Rotterdam, The NetherlandsRotterdam, The NetherlandsSELECTBIOenquiries@selectbiosciences.com
Add to Calendar ▼2018-10-24 14:30:002018-10-24 15:30:00Europe/LondonLiquid Biopsy: Screening for Single Nucleotide Variants and Indels From Cell-Free Tumoral DNAExosomes and Liquid Biopsies Europe 2018 in Rotterdam, The NetherlandsRotterdam, The NetherlandsSELECTBIOenquiries@selectbiosciences.com
