Genome-wide somatic variant calling using localized colored de Bruijn graphs

por Narzisi, Giuseppe, Corvelo, André, Arora, Kanika, Bergmann, Ewa A., Shah, Minita, Musunuri, Rajeeva, Emde, Anne-Katrin, Robine, Nicolas, Vacic, Vladimir, Zody, Michael C.
Publicado 2018

High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

por Byrska-Bishop, Marta, Evani, Uday S., Zhao, Xuefang, Basile, Anna O., Abel, Haley J., Regier, Allison A., Corvelo, André, Clarke, Wayne E., Musunuri, Rajeeva, Nagulapalli, Kshithija, Fairley, Susan, Runnels, Alexi, Winterkorn, Lara, Lowy, Ernesto, Paul Flicek, Germer, Soren, Brand, Harrison, Hall, Ira M., Talkowski, Michael E., Narzisi, Giuseppe, Zody, Michael C.
Publicado 2022

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

por Padhi, Evin M., Hayeck, Tristan J., Cheng, Zhang, Chatterjee, Sumantra, Mannion, Brandon J., Byrska-Bishop, Marta, Willems, Marjolaine, Pinson, Lucile, Redon, Sylvia, Benech, Caroline, Uguen, Kevin, Audebert-Bellanger, Séverine, Le Marechal, Cédric, Férec, Claude, Efthymiou, Stephanie, Rahman, Fatima, Maqbool, Shazia, Maroofian, Reza, Houlden, Henry, Musunuri, Rajeeva, Narzisi, Giuseppe, Abhyankar, Avinash, Hunter, Riana D., Akiyama, Jennifer, Fries, Lauren E., Ng, Jeffrey K., Mehinovic, Elvisa, Stong, Nick, Allen, Andrew S., Dickel, Diane E., Bernier, Raphael A., Gorkin, David U., Pennacchio, Len A., Zody, Michael C., Turner, Tychele N.
Publicado 2021

A strategy for building and using a human reference pangenome

por Llamas, Bastien, Narzisi, Giuseppe, Schneider, Valerie, Audano, Peter A., Biederstedt, Evan, Blauvelt, Lon, Bradbury, Peter, Chang, Xian, Chin, Chen-Shan, Fungtammasan, Arkarachai, Clarke, Wayne E., Cleary, Alan, Ebler, Jana, Eizenga, Jordan, Sibbesen, Jonas A., Markello, Charles J., Garrison, Erik, Garg, Shilpa, Hickey, Glenn, Lazo, Gerard R., Lin, Michael F., Mahmoud, Medhat, Marschall, Tobias, Minkin, Ilia, Monlong, Jean, Musunuri, Rajeeva L., Sagayaradj, Sagayamary, Novak, Adam M., Rautiainen, Mikko, Regier, Allison, Sedlazeck, Fritz J., Siren, Jouni, Souilmi, Yassine, Wagner, Justin, Wrightsman, Travis, Yokoyama, Toshiyuki T., Zeng, Qiandong, Zook, Justin M., Paten, Benedict, Busby, Ben
Publicado 2021