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收藏A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
Eisfeldt, Jesper; Ameur, Adam; Lenner, Felix; Ten Berk de Boer, Esmee; Ek, Marlene; Wincent, Josephine; Vaz, Raquel; Ottosson, Jesper; Jonson, Tord; Ivarsson, Sofie; Thunstroem, Sofia; Topa, Alexandra; Stenberg, Simon; Rohlin, Anna; Sandestig, Anna; Nordling, Margareta; Palmeback, Pia; Burstedt, Magnus; Nordin, Frida; Stattin, Eva-Lena; Sobol, Maria; Baliakas, Panagiotis; Bondeson, Marie-Louise; Hoijer, Ida; Saether, Kristine Bilgrav; Lovmar, Lovisa; Ehrencrona, Hans; Melin, Malin; Feuk, Lars; Lindstrand, Anna
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收藏A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing
Wiklander, Mariya Lysenkova; Arvidsson, Gustav; Bunikis, Ignas; Lundmark, Anders; Raine, Amanda; Marincevic-Zuniga, Yanara; Gezelius, Henrik; Bremer, Anna; Feuk, Lars; Ameur, Adam; Nordlund, Jessica
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收藏Long-read whole-genome analysis of human single cells
Hard, Joanna; Mold, Jeff E.; Eisfeldt, Jesper; Tellgren-Roth, Christian; Haggqvist, Susana; Bunikis, Ignas; Contreras-Lopez, Orlando; Chin, Chen-Shan; Nordlund, Jessica; Rubin, Carl-Johan; Feuk, Lars; Michaelsson, Jakob; Ameur, Adam
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收藏CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations
Hoijer, Ida; Emmanouilidou, Anastasia; Ostlund, Rebecka; van Schendel, Robin; Bozorgpana, Selma; Tijsterman, Marcel; Feuk, Lars; Gyllensten, Ulf; den Hoed, Marcel; Ameur, Adam
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收藏DLG4-related synaptopathy: a new rare brain disorderDLG4-related突触病: 一种新的罕见的脑部疾病
Rodriguez-Palmero, Agusti; Boerrigter, Melissa Maria; Gomez-Andres, David; Aldinger, Kimberly A.; Marcos-Alcalde, Inigo; Popp, Bernt; Everman, David B.; Lovgren, Alysia Kern; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V. A.; Bruel, Ange-Line; Challman, Thomas D.; Cogne, Benjamin; Coubes, Christine; de Man, Stella A.; Denomme-Pichon, Anne-Sophie; Dye, Thomas J.; Elmslie, Frances; Feuk, Lars; Garcia-Minaur, Sixto; Gertler, Tracy; Giorgio, Elisa; Gruchy, Nicolas; Haack, Tobias B.; Haldeman-Englert, Chad R.; Haukanes, Bjorn Ivar; Hoyer, Juliane; Hurst, Anna C. E.; Isidor, Bertrand; Soller, Maria Johansson; Kushary, Sulagna; Kvarnung, Malin; Landau, Yuval E.; Leppig, Kathleen A.; Lindstrand, Anna; Kleinendorst, Lotte; MacKenzie, Alex; Mandrile, Giorgia; Mendelsohn, Bryce A.; Moghadasi, Setareh; Morton, Jenny E.; Moutton, Sebastien; Mueller, Amelie J.; O'Leary, Melanie; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Pfundt, Rolph; Pode-Shakked, Ben; Rauch, Anita; Repnikova, Elena; Revah-Politi, Anya; Ross, Meredith J.; Ruivenkamp, Claudia A. L.; Sarrazin, Elisabeth; Savatt, Juliann M.; Schlueter, Agatha; Schoenewolf-Greulich, Bitten; Shad, Zohra; Shaw-Smith, Charles; Shieh, Joseph T.; Shohat, Motti; Spranger, Stephanie; Thiese, Heidi; Mau-Them, Frederic Tran; van Bon, Bregje; van de Burgt, Ineke; van de Laar, Ingrid M. B. H.; van Drie, Esmee; van Haelst, Mieke M.; van Ravenswaaij-Arts, Conny M.; Verdura, Edgard; Vitobello, Antonio; Waldmueller, Stephan; Whiting, Sharon; Zweier, Christiane; Prada, Carlos E.; de Vries, Bert B. A.; Dobyns, William B.; Reiter, Simone F.; Gomez-Puertas, Paulino; Pujol, Aurora; Tumer, Zeynep
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收藏Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity无扩增长读测序揭示了不可预见的CRISPR-Cas9脱靶活性
Hoijer, Ida; Johansson, Josefin; Gudmundsson, Sanna; Chin, Chen-Shan; Bunikis, Ignas; Haggqvist, Susana; Emmanouilidou, Anastasia; Wilbe, Maria; den Hoed, Marcel; Bondeson, Marie-Louise; Feuk, Lars; Gyllensten, Ulf; Ameur, Adam
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收藏Exploring autoantibody signatures in brain tissue from patients with severe mental illness
Just, David; Manberg, Anna; Mitsios, Nicholas; Stockmeier, Craig A.; Rajkowska, Grazyna; Uhlen, Mathias; Mulder, Jan; Feuk, Lars; Cunningham, Janet L.; Nilsson, Peter; Carlstrom, Eva Lindholm
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收藏Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder
Ramos, Jillian; Proven, Melissa; Halvardson, Jonatan; Hagelskamp, Felix; Kuchinskaya, Ekaterina; Phelan, Benjamin; Bell, Ryan; Kellner, Stefanie M.; Feuk, Lars; Thuresson, Ann-Charlotte; Fu, Dragony
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收藏Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
Hoijer, Ida; Tsai, Yu-Chih; Clark, Tyson A.; Kotturi, Paul; Dahl, Niklas; Stattin, Eva-Lena; Bondeson, Marie-Louise; Feuk, Lars; Gyllensten, Ulf; Ameur, Adam
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收藏A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0)一种3向混合方法,用于生成新的高质量黑猩猩参考基因组 (Pan_tro_3.0)
Kuderna, Lukas F. K.; Tomlinson, Chad; Hillier, LaDeana W.; Tran, Annabel; Fiddes, Ian T.; Armstrong, Joel; Laayouni, Hafid; Gordon, David; Huddleston, John; Garcia Perez, Raquel; Povolotskaya, Inna; Serres Armero, Aitor; Gomez Garrido, Jessica; Ho, Daniel; Ribeca, Paolo; Alioto, Tyler; Green, Richard E.; Paten, Benedict; Navarro, Arcadi; Betranpetit, Jaume; Herrero, Javier; Eichler, Evan E.; Sharp, Andrew J.; Feuk, Lars; Warren, Wesley C.; Marques-Bonet, Tomas
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