Immunoglobulin transcript sequence and somatic hypermutation computation from unselected RNA-seq reads in chronic lymphocytic leukemia

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ID: 111691
2015
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Abstract
IGHV mutation status is a well established prognostic factor in chronic lymphocytic leukemia, and also provides crucial insights into tumor cell biology and function. Currently, determination of IGHV transcript sequence, from which mutation status is calculated, requires a specialized laboratory procedure. RNA sequencing is a method that provides high resolution, high dynamic range transcriptome data that can be used for differential expression, isoform discovery, and variant determination. In this paper, we demonstrate that unselected next-generation RNA sequencing can accurately determine the IGH@ sequence, including the complete sequence of the complementarity-determining region 3 (CDR3), and mutation status of CLL cells, potentially replacing the current method which is a specialized, single-purpose Sanger-sequencing based test.
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blachly2015proceedingsimmunoglobulin Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors James S. Blachly;Amy S. Ruppert;Weiqiang Zhao;Susan Long;Joseph Flynn;Ian Flinn;Jeffrey Jones;Kami Maddocks;Leslie Andritsos;Emanuela M. Ghia;Laura Z. Rassenti;Thomas J. Kipps;Albert de la Chapelle;John C. Byrd;James S. Blachly;Amy S. Ruppert;Weiqiang Zhao;Susan Long;Joseph Flynn;Ian Flinn;Jeffrey Jones;Kami Maddocks;Leslie Andritsos;Emanuela M. Ghia;Laura Z. Rassenti;Thomas J. Kipps;Albert de la Chapelle;John C. Byrd;
Journal proceedings of the national academy of sciences
Year 2015
DOI
10.1073/pnas.1503587112
URL
https://doi.org/10.1073%2Fpnas.1503587112
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