Université de Fribourg

Generation of SNP datasets for orangutan population genomics using improved reduced-representation sequencing and direct comparisons of SNP calling algorithms

Greminger, Maja P ; Stölting, Kai N ; Nater, Alexander ; Goossens, Benoit ; Arora, Natasha ; Bruggmann, Rémy ; Patrignani, Andrea ; Nussberger, Beatrice ; Sharma, Reeta ; Kraus, Robert H S ; Ambu, Laurentius N ; Singleton, Ian ; Chikhi, Lounes ; Schaik, Carel P van ; Krützen, Michael

In: BMC Genomics, 2014, vol. 15, no. 1, p. 16

Background: High-throughput sequencing has opened up exciting possibilities in population and conservation genetics by enabling the assessment of genetic variation at genome-wide scales. One approach to reduce genome complexity, i.e. investigating only parts of the genome, is reduced-representation library (RRL) sequencing. Like similar approaches, RRL sequencing reduces ascertainment bias due to...

Université de Fribourg

Identification of a SIRT1 Mutation in a Family with Type 1 Diabetes

Biason-Lauber, Anna ; Böni-Schnetzler, Marianne ; Hubbard, Basil P. ; Bouzakri, Karim ; Brunner, Andrea ; Cavelti-Weder, Claudia ; Keller, Cornelia ; Meyer-Böni, Monika ; Meier, Daniel T. ; Brorsson, Caroline ; Timper, Katharina ; Leibowitz, Gil ; Patrignani, Andrea ; Bruggmann, Remy ; Boily, Gino ; Zulewski, Henryk ; Geier, Andreas ; Cermak, Jennifer M. ; Elliott, Peter ; Ellis, James L. ; Westphal, Christoph ; Knobel, Urs ; Eloranta, Jyrki J. ; Kerr-Conte, Julie ; Pattou, François ; Konrad, Daniel ; Matter, Christian M. ; Fontana, Adriano ; Rogler, Gerhard ; Schlapbach, Ralph ; Regairaz, Camille ; Carballido, José M. ; Glaser, Benjamin ; McBurney, Michael W. ; Pociot, Flemming ; Sinclair, David A. ; Donath, Marc Y.

In: Cell Metabolism, 2013, vol. 17, no. 3, p. 448-455

Type 1 diabetes is caused by autoimmune-mediated β cell destruction leading to insulin deficiency. The histone deacetylase SIRT1 plays an essential role in modulating several age-related diseases. Here we describe a family carrying a mutation in the SIRT1 gene, in which all five affected members developed an autoimmune disorder: four developed type 1 diabetes, and one developed ulcerative...