Structural Variation Detection by Proximity Ligation from FFPE Tumor Tissue
Presented by Dr. Helio Costa, Stanford University
This webinar discusses a proximity ligation-based method for studying structural variation in formalin-fixed paraffin-embedded (FFPE) human tumor tissue samples.
FFPE tissue produces highly fragmented, low-molecular weight nucleic acids, presenting a principal challenge to identifying relevant genetic variants with tumor sequencing. This sub-optimal input specimen was previously not thought to contain long-range (Mbp+) information needed to accurately and robustly identify balanced and unbalanced large-scale structural variation and phasing from these specimens.
This webinar highlights a proof-of-concept study for using Hi-C chromosome conformation capture methodology for FFPE tissue, called Fix-C, which yields phased read pairs spanning distances up to full chromosomes and enables unambiguous structural variation detection and variant phasing in archival specimens.