Alexander Hoischen
@ahoischen
Genomic technologies: WES/WGS, longreads, somatic mutations; Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis
06-07-2015 17:54:28
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Day 1 #bertinoro2024 kicked off by a legend in our field Dian Donnai ๐ท๐บ๐ฆ. She has educated a generation of amazing scientists and clinicians in Manchester - and her books are mandatory reads for everyone in genetics.
Followed up by our very own Han Brunner. Human Genetics Nijmegen, Radboudumc Radboudumc
Why do we have the mutations we have? And what is the mutational architecture of monogenic disease?
Human Genetics Nijmegen, Radboudumc Radboudumc Third talk by Eva Klopocki.
Cytogenetics and its understanding is fundamental for our field.
Human Genetics Nijmegen, Radboudumc Radboudumc Fourth and last lecture of day1.
By the wonderful Sofia Douzgou Houge: syndromology in the NGS era.