Article
A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5.
Blood cancer journal - 21 Mar 2018
White Brian S, Lanc Irena, O'Neal Julie, Gupta Harshath, Fulton Robert S, Schmidt Heather, Fronick Catrina, Belter Edward A, Fiala Mark, King Justin, Ahmann Greg J, DeRome Mary, Mardis Elaine R, Vij Ravi, DiPersio John F, Levy Joan, Auclair Daniel, Tomasson Michael H
Abstract excerpt
Multiple myeloma (MM) is a disease of copy number variants (CNVs), chromosomal translocations, and single-nucleotide variants (SNVs). To enable integrative studies across these diverse mutation types, we developed a capture-based sequencing platform to detect their occurrence in 465 genes altered in MM and used it to sequence 95 primary tumor-normal pairs to a mean depth of 104×. We detected cases of...
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