Clinical sequencing: is WGS the better WES?

Por Meienberg, Janine, Bruggmann, Rémy, Oexle, Konrad, Matyas, Gabor
Publicado no Hum Genet (2016)

Need for speed in accurate whole-genome data analysis: GENALICE MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac

Por Plüss, Michel, Kopps, Anna M., Keller, Irene, Meienberg, Janine, Caspar, Sylvan M., Dubacher, Nicolo, Bruggmann, Rémy, Vogel, Manfred, Matyas, Gabor
Publicado no Proc Natl Acad Sci U S A (2017)

New insights into the performance of human whole-exome capture platforms

Por Meienberg, Janine, Zerjavic, Katja, Keller, Irene, Okoniewski, Michal, Patrignani, Andrea, Ludin, Katja, Xu, Zhenyu, Steinmann, Beat, Carrel, Thierry, Röthlisberger, Benno, Schlapbach, Ralph, Bruggmann, Rémy, Matyas, Gabor
Publicado no Nucleic Acids Res (2015)

Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era

Por Benke, Kálmán, Ágg, Bence, Meienberg, Janine, Kopps, Anna M., Fattorini, Nathalie, Stengl, Roland, Daradics, Noémi, Pólos, Miklós, Bors, András, Radovits, Tamás, Merkely, Béla, De Backer, Julie, Szabolcs, Zoltán, Mátyás, Gábor
Publicado no J Thorac Dis (2018)

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

Por Meienberg, Janine, Rohrbach, Marianne, Neuenschwander, Stefan, Spanaus, Katharina, Giunta, Cecilia, Alonso, Sira, Arnold, Eliane, Henggeler, Caroline, Regenass, Stephan, Patrignani, Andrea, Azzarello-Burri, Silvia, Steiner, Bernhard, Nygren, Anders OH, Carrel, Thierry, Steinmann, Beat, Mátyás, Gábor
Publicado em 2010