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Disputation Sebastian Niehus

19.07.2022 | 15:00
Thema der Dissertation:
Multi-Sample Approaches and Applications for Structural VariantDetection
Thema der Disputation:
Analysis of the expanded 1000 Genomes Project cohort using svtools
Abstract: The 1000 Genomes Project (G1k) has enabled numerous important discoveries since its initial release in 2012. One limiting factor of the G1k cohort has since been the low coverage at which most genomes of the cohort had been sequenced. Now, the G1k cohort has been re-sequenced, allowing for promising follow up analyses.
In this talk, I will present the recent expansion of the G1k cohort by the deep sequencing of 3,202 genomes, with a focus on the population-scale structural variant (SV) calling on this expanded cohort via the svtools pipeline. Svtools enables the SV calling on thousands of samples simultaneously by smart management of its subprocesses and data. I will discuss the strategies underlying svtools as well as its algorithmic approaches for the detection, merging and genotyping of SVs with high accuracy.

Zeit & Ort

19.07.2022 | 15:00

Seminarraum 108/109
(Fachbereich Mathematik und Informatik, Arnimallee 6, 14195 Berlin)