Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities |
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| Authors: | Matthew N Bainbridge Min Wang Yuanqing Wu Irene Newsham Donna M Muzny John L Jefferies Thomas J Albert Daniel L Burgess Richard A Gibbs |
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| Institution: | (1) Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA;(2) Department of Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA;(3) Department of Pediatrics-Cardiology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA;(4) Roche NimbleGen, Inc., 504 S. Rosa Road, Madison, WI 53719, USA |
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| Abstract: | Background Enrichment of loci by DNA hybridization-capture, followed by high-throughput sequencing, is an important tool in modern genetics.
Currently, the most common targets for enrichment are the protein coding exons represented by the consensus coding DNA sequence
(CCDS). The CCDS, however, excludes many actual or computationally predicted coding exons present in other databases, such
as RefSeq and Vega, and non-coding functional elements such as untranslated and regulatory regions. The number of variants
per base pair (variant density) and our ability to interrogate regions outside of the CCDS regions is consequently less well
understood. |
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