Segregation analysis for variant interpretation
Speaker: Magnus Dehli Vigeland, Digital solutions for genomic medicine, Department of Medical Genetics, Oslo University Hospital
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Meeting ID: 679 4613 5191
In medical genetics one is frequently confronted with "variants of uncertain significance", typically rare DNA variants carrying hallmarks of being pathogenic, but without previous disease associations. In such cases, if further evidence is needed to reach a diagnostic conclusion, the family of the patient may be a potent source of information: If the variant is found to co-segregate with the disease, this strengthens the hypothesis of pathogenicity. However, the question of how to quantify such segregation evidence is not well studied, and appropriate software is lacking. In this talk, I describe different approaches to this problem and discuss recent work aiming to improve the current situation. The methods are implemented in the R package "segregatr" (https://github.com/magnusdv/segregatr) which is part of the "ped suite", a collection of packages for pedigree analysis in R (https://magnusdv.github.io/pedsuite/).
NB! The seminar will be a hybrid event, both physically in Runde Auditorium at Domus Medica, UiO, and on Zoom.