O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes*

• Fabiola Quintero-Rivera,
• Yulia Mostovoy,
• Philip Boone,
• Steve Huang,
• Kiran Garimella,
• Julian Martinez-Agosto,
• Bianca Russell,
• Tera Bowers,
• Tim De Smet,
• Stacey Gabriel,
• James Gusella,
• Harrison Brand,
• Michael Talkowski

Affiliations

Fabiola Quintero-Rivera

University of California Irvine

Yulia Mostovoy

Massachusetts General, Broad Institute of MIT and Harvard, Boston, MA

Philip Boone

Massachusetts General Hospital, Boston Children's Hospital

Steve Huang

Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA

Kiran Garimella

Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA

Julian Martinez-Agosto

University of California, Los Angeles

Bianca Russell

University of California, Los Angeles

Tera Bowers

Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA

Tim De Smet

Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA

Stacey Gabriel

Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA

James Gusella

Massachusetts General, Broad Institute of MIT and Harvard, Boston, MA

Harrison Brand

Massachusetts General, Broad Institute of MIT and Harvard, Boston, MA

Michael Talkowski

Massachusetts General, Broad Institute of MIT and Harvard, Boston, MA