On October 6th, 2022, we had the pleasure to have José Miguel Lázaro-Guevara, a postdoctoral researcher at the University of British Columbia, in our Biology seminar. His talk was related to pharmacogenomics. The idea behind the field of pharmacogenomics is that the effectiveness of drugs in medical treatments is partially determined by the genetic variation of patients, but producing genome-wide data for one patient is costly and not affordable for many patients or insurance companies. For these cases, Lázaro-Guevara proposes using an extreme-low coverage genotyping, which consists on sequencing random sections of the genome of on a patient. By doing so, it is possible to later use a background reference (the genome of other genetically related people) to apply an imputation method to infer the parts of the genome that were not directly sequenced. By showing clinical cases on patients from a population from Utah, USA, the extreme-low coverage method seems to be a reliable and effective method to detect associations between genetic variation and the effectiveness of drug treatment.

Reported by José Said Gutiérrez-Ortega

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