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Oxford University Press (OUP), Bioinformatics, 23(30), p. 3414-3416

DOI: 10.1093/bioinformatics/btu577

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RVboost: RNA-seq variants prioritization using a boosting method

Journal article published in 2014 by Chen Wang, Jaime I. Davila, Saurabh Baheti, Aditya V. Bhagwate, Xue Wang, Jean-Pierre A. Kocher, Susan L. Slager, Andrew L. Feldman ORCID, Anne J. Novak, James R. Cerhan, E. Aubrey Thompson, E. Aubrey Thompson, Yan W. Asmann
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Motivation: RNA-seq has become the method of choice to quantify genes and exons, discover novel transcripts and detect fusion genes. However, reliable variant identification from RNA-seq data remains challenging because of the complexities of the transcriptome, the challenges of accurately mapping exon boundary spanning reads and the bias introduced during the sequencing library preparation.