Vortrag: Towards a unified theory of variant calling

Liebe Nutzer,

wir freuen uns am 18. Dezember Johannes Köster (Universitätsklinikum Essen) zu Gast zu haben. Er wird einen Vortrag zum Thema

Towards a unified theory of variant calling

halten. Der Abstract:

The field of variant calling could so far be splitted into small vs. structural and germline vs. somatic, with many specialized algorithms, but no unified solution. We present a novel statistical model that handles all above scenarios in a unified way.

Moreover, the model reaches beyond such standard questions, by allowing to describe and assess arbitrary calling scenarios via boolean logic formulas over allele frequency ranges in arbitrary numbers of samples. Thereby, it not only unifies across all variant size ranges, but also integrates traditional post-hoc filtering steps
into a single statistical assessment. In turn, this enables, for the first time, true bayesian false discovery rate control for variant calling.

Johannes Köster wird am 18. Dezember um 13:30 im Besprechungsraum 3 des ZDV sprechen.

Fragen und Anregungen richten Sie bitte an hpc-colloqium@uni-mainz.de

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