Detecting recombination events and small de novo structural variants with Duplex Sequencing
Sprache des Vortragstitels:
Englisch
Original Tagungtitel:
SFB meiosis retreat 2024
Sprache des Tagungstitel:
Englisch
Original Kurzfassung:
Meiosis is initiated by Spo11-mediated DNA double-strand breaks (DSBs) at so called ?recombination hotspots?. Some breaks are repaired via the canonical pathway including double-Holliday junction formation that can either be resolved as crossovers (COs) or non-crossovers (NCOs). There are also non-canonical repair pathways, such as non-homologous end joining (NHEJ) that are more error prone and can potentially lead to de novo mutations (DNMs).
In this study, we use genetically engineered S. cerevisiae to induce meiosis and analyze the outcomes of meiotic DSB repair at single molecule level using error-corrected Illumina sequencing (Duplex Sequencing). The great advantage of this method is to have the information of both the forward and the reverse strand, which yields a high accuracy. This highly sensitive technique can measure mutations down to frequencies of 10^-9.
Here, we quantify and analyze recombination events - crossovers (COs) and non-crossovers (NCOs) - as well as small de novo structural variants (such as insertions and deletions <50bp).
Forschungs-