/ http://www.slideshare.net/images/logo.gif / 際際滷Share feed for 際際滷shows by User: MetteNyegaard https://cdn.slidesharecdn.com/profile-photo-MetteNyegaard-48x48.jpg?cb=1569355586 I am a molecular geneticist. My main interest is the human genome, with focus on genetic variation and its consequence for phenotype. I work in the interface between wet-lab and bioinformatics, and have expertise with gene mapping in both rare Mendelian diseases and common complex disorders. Key technologies used are linkage analysis, genome-wide association studies, exome sequencing, genotyping, mutation screening, DNA methylation, qPCR and RNAseq. Previous work in the field of monogenic diseases include the identification of a new disease gene for sudden cardiac death (CALM1), Seckel syndrome (RBBP8), and non-syndromic hearing loss (CD164). Also, new mutations in known disease genes... http://pure.au.dk/portal/da/persons/mette-nyegaard(a34df7ff-0fb5-44b0-8255-6dc2c9b962f3).html