Long-read genome sequencing identifies causal structural variation in a Mendelian disease Running title: Long-read WGS identifies causal SV in a Mendelian disease

door Merker, Jason D., Wenger, Aaron M., Sneddon, Tam, Grove, Megan, Zappala, Zach, Fresard, Laure, Waggott, Daryl, Utiramerur, Sowmi, Hou, Yanli, Smith, Kevin S., Montgomery, Stephen B., Wheeler, Matthew, Buchan, Jillian G., Lambert, Christine C., Eng, Kevin S., Hickey, Luke, Korlach, Jonas, Ford, James, Ashley, Euan A.
Gepubliceerd in Genet Med (2017)

RNA-Seq Mapping and Detection of Gene Fusions with a Suffix Array Algorithm

door Sakarya, Onur, Breu, Heinz, Radovich, Milan, Chen, Yongzhi, Wang, Yulei N., Barbacioru, Catalin, Utiramerur, Sowmi, Whitley, Penn P., Brockman, Joel P., Vatta, Paolo, Zhang, Zheng, Popescu, Liviu, Muller, Matthew W., Kudlingar, Vidya, Garg, Nriti, Li, Chieh-Yuan, Kong, Benjamin S., Bodeau, John P., Nutter, Robert C., Gu, Jian, Bramlett, Kelli S., Ichikawa, Jeffrey K., Hyland, Fiona C., Siddiqui, Asim S.
Gepubliceerd in 2012