Preserving sequence annotations across reference sequences

por Tatum, Zuotian, Roos, Marco, Gibson, Andrew P, Taschner, Peter EM, Thompson, Mark, Schultes, Erik A, Laros, Jeroen FJ
Publicado 2014

Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy

por Šikrová, Darina, Cadar, Vlad A., Ariyurek, Yavuz, Laros, Jeroen F.J., Balog, Judit, van der Maarel, Silvère M.
Publicado 2021

SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing

por Pulyakhina, Irina, Gazzoli, Isabella, ’t Hoen, Peter A.C., Verwey, Nisha, den Dunnen, Johan, Aartsma-Rus, Annemieke, Laros, Jeroen F.J.
Publicado 2015

SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing

por Pulyakhina, Irina, Gazzoli, Isabella, Hoen, Peter A.C.'t, Verwey, Nisha, den Dunnen, Johan T., Aartsma-Rus, Annemieke, Laros, Jeroen F.J.
Publicado 2015

Determining the quality and complexity of next-generation sequencing data without a reference genome

por Anvar, Seyed Yahya, Khachatryan, Lusine, Vermaat, Martijn, van Galen, Michiel, Pulyakhina, Irina, Ariyurek, Yavuz, Kraaijeveld, Ken, den Dunnen, Johan T, de Knijff, Peter, ’t Hoen, Peter AC, Laros, Jeroen FJ
Publicado 2014

Coronavirus discovery by metagenomic sequencing: a tool for pandemic preparedness

por Carbo, Ellen C., Sidorov, Igor A., Zevenhoven-Dobbe, Jessika C., Snijder, Eric J., Claas, Eric C., Laros, Jeroen F.J., Kroes, Aloys C.M., de Vries, Jutte J.C.
Publicado 2020

Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck

por Li, Mingkun, Rothwell, Rebecca, Vermaat, Martijn, Wachsmuth, Manja, Schröder, Roland, Laros, Jeroen F.J., van Oven, Mannis, de Bakker, Paul I.W., Bovenberg, Jasper A., van Duijn, Cornelia M., van Ommen, Gert-Jan B., Slagboom, P. Eline, Swertz, Morris A., Wijmenga, Cisca, Kayser, Manfred, Boomsma, Dorret I., Zöllner, Sebastian, de Knijff, Peter, Stoneking, Mark
Publicado 2016

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

por Sun, Yu, Bak, Beata, Schoenmakers, Nadia, van Trotsenburg, A.S. Paul, Oostdijk, Wilma, Voshol, Peter, Cambridge, Emma, White, Jacqueline K., le Tissier, Paul, Gharavy, S. Neda Mousavy, Martinez-Barbera, Juan P., Stokvis-Brantsma, Wilhelmina H., Vulsma, Thomas, Kempers, Marlies J., Persani, Luca, Campi, Irene, Bonomi, Marco, Beck-Peccoz, Paolo, Zhu, Hongdong, Davis, Timothy M.E., Hokken-Koelega, Anita C.S., Del Blanco, Daria Gorbenko, Rangasami, Jayanti J., Ruivenkamp, Claudia A.L., Laros, Jeroen F.J., Kriek, Marjolein, Kant, Sarina G., Bosch, Cathy A.J., Biermasz, Nienke R., Appelman-Dijkstra, Natasha M., Corssmit, Eleonora P., Hovens, Guido C.J., Pereira, Alberto M., den Dunnen, Johan T., Wade, Michael G., Breuning, Martijn H., Hennekam, Raoul C., Chatterjee, Krishna, Dattani, Mehul T., Wit, Jan M., Bernard, Daniel J.
Publicado 2012