Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing by Michelle A. Wedemeyer, Tianli Ding, Elizabeth A. R. Garfinkle, Jesse J. Westfall, Jaye B. Navarro, Maria Elena Hernandez Gonzalez, Elizabeth A. Varga, Patricia Witman, Elaine R. Mardis, Catherine E. Cottrell, Anthony R. Miller, Katherine E. Miller

Get full text

Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity by Saranga Wijeratne, Maria E. Hernandez Gonzalez, Kelli Roach, Katherine E. Miller, Kathleen M. Schieffer, James R. Fitch, Jeffrey Leonard, Peter White, Benjamin J. Kelly, Catherine E. Cottrell, Elaine R. Mardis, Richard K. Wilson, Anthony R. Miller

Get full text

Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes by Iftekhar A. Showpnil, Maria E. Hernandez Gonzalez, Swetha Ramadesikan, Mohammad Marhabaie, Allison Daley, Leeran Dublin-Ryan, Matthew T. Pastore, Umamaheswaran Gurusamy, Jesse M. Hunter, Brandon S. Stone, Dennis W. Bartholomew, Kandamurugu Manickam, Anthony R. Miller, Richard K. Wilson, Rolf W. Stottmann, Daniel C. Koboldt

Get full text