Leenaards prize 2013

The team of Pierre-Yves Bochud (CHUV-UNIL), Zoltán Kutalik (UNIL-SIB), Oscar Marchetti (CHUV-UNIL) and Christian van Delden (HUG & UNIGE) received the Leenaards Prize 2013 for their project “Host genome and transcriptome: new diagnostic and treatment strategies for fungal infections“.

More details can be found: UNIL News, CHUV News, SIB News, UNIGE News, HUG News, Leenaards Foundation, 24 heures, Le Temps, L’Agefi, La Liberté

Multi-SNP association method reveals allelic heterogeneity

There are many known examples of the allelic heterogeneity and imperfect tagging phenomena. The former one is of great importance in monogenic traits but has not yet been systematically investigated and quantified in complex-trait genome-wide association studies (GWASs). We devised a multi-SNP association method that estimates the effect of loci harboring multiple association signals by using GWAS summary statistics.

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Underweight and obese phenotypes can both pose health risks. But whereas obesity has been associated with a number of genetic variants, little is known about the genetic basis of underweight. A large-scale screen of data from 28 cytogenetic centres in Europe and North America now shows that being underweight is frequently associated with duplication of a short region on chromosome 16. Continue reading

Novel method to estimate explained variance of GWAS hits reveals large fraction of the missing heritability

Genome-wide association studies (GWAS) are conducted with the promise to discover novel genetic variants associated with diverse traits. For most traits, associated markers individually explain just a modest fraction of the phenotypic variation, but their number can well be in the hundreds. We developed a maximum likelihood method that allows us to infer the distribution of associated variants even when many of them were missed by chance.

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Genome-wide Association Study reveals new HLA-haplotype strongly protective against narcolepsy

We are involved in a Genome-wide Association Study on narcolepsy conducted by Mehdi Tafti’s Group at the University of Lausanne. In brief, we identified a haplotype in the HLA-region that is strongly protective against narcolepsy. More than 10% of HLA-positive controls carry this DRB1*1301-DQB1*0603 haplotype, which was found in virtually no narcoleptic cases. The research findings were published in Nature Genetics.