The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues

nork Muyas, Francesc, Zapata, Luis, Guigó, Roderic, Ossowski, Stephan
Argitaratua izan da Genome Med (2020)

Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation

nork Susak, Hana, Serra-Saurina, Laura, Demidov, German, Rabionet, Raquel, Domènech, Laura, Bosio, Mattia, Muyas, Francesc, Estivill, Xavier, Escaramís, Geòrgia, Ossowski, Stephan
Argitaratua izan da PLoS Comput Biol (2021)

Allele balance bias identifies systematic genotyping errors and false disease associations

nork Muyas, Francesc, Bosio, Mattia, Puig, Anna, Susak, Hana, Domènech, Laura, Escaramis, Georgia, Zapata, Luis, Demidov, German, Estivill, Xavier, Rabionet, Raquel, Ossowski, Stephan
Argitaratua izan da Hum Mutat (2018)

eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics

nork Bosio, Mattia, Drechsel, Oliver, Rahman, Rubayte, Muyas, Francesc, Rabionet, Raquel, Bezdan, Daniela, Domenech Salgado, Laura, Hor, Hyun, Schott, Jean‐Jacques, Munell, Francina, Colobran, Roger, Macaya, Alfons, Estivill, Xavier, Ossowski, Stephan
Argitaratua izan da Hum Mutat (2019)

Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia

nork Pogoda, Michaela, Hilke, Franz-Joachim, Lohmann, Ebba, Sturm, Marc, Lenz, Florian, Matthes, Jakob, Muyas, Francesc, Ossowski, Stephan, Hoischen, Alexander, Faust, Ulrike, Sepahi, Ilnaz, Casadei, Nicolas, Poths, Sven, Riess, Olaf, Schroeder, Christopher, Grundmann, Kathrin
Argitaratua izan da Front Neurol (2019)

Genomics of Ecological Adaptation in Cactophilic Drosophila

nork Guillén, Yolanda, Rius, Núria, Delprat, Alejandra, Williford, Anna, Muyas, Francesc, Puig, Marta, Casillas, Sònia, Ràmia, Miquel, Egea, Raquel, Negre, Barbara, Mir, Gisela, Camps, Jordi, Moncunill, Valentí, Ruiz-Ruano, Francisco J., Cabrero, Josefa, de Lima, Leonardo G., Dias, Guilherme B., Ruiz, Jeronimo C., Kapusta, Aurélie, Garcia-Mas, Jordi, Gut, Marta, Gut, Ivo G., Torrents, David, Camacho, Juan P., Kuhn, Gustavo C.S., Feschotte, Cédric, Clark, Andrew G., Betrán, Esther, Barbadilla, Antonio, Ruiz, Alfredo
Argitaratua izan da Genome Biol Evol (2014)