PRINCESS:A Framework for Comprehensive Detection & Haplotype Phasing of SNPs and Structural Variants

Presented By: Medhat Mahmoud, PhD

Speaker Biography: Degree: Ph.D. in Biochemistry, Institute of Bioorganic Chemistry, Polish Academy of Science, Poznań, Poland.
Postdoc fellow in Human Genome Sequencing Center, Baylor College of Medicine.

Webinar: PRINCESS: A Framework for Comprehensive Detection and Haplotype Phasing of SNPs and Structural Variants


Webinar Abstract: Long-read DNA sequencing technologies such as the Pacific Biosciences (PacBio) and Oxford Nanopore (ONT) platforms, have demonstrated enhanced detection of genomic variation, including Single Nucleotide Variants (SNVs), Structural Variants (SVs) and methylation changes. Individual studies so far have, however, have focused only on one of the three classes of variation: SNVs, SVs or methylation changes. Furthermore, only a few studies include phasing information to improve prediction of these classes of variation, to better associate genetic variation with phenotypes.

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