Journal
GENOMICS
Volume 98, Issue 4, Pages 302-309Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ygeno.2011.05.004
Keywords
Mutation detection; Sequence analysis; Clonal sequencing; Software
Funding
- UK Department of Health under the New and Emerging Applications of Technology (NEAT) [H033]
- Leeds Teaching Hospitals Charitable Trust
- Sir Jules Thorn Charitable Trust
- Emmandjay Charitable Trust
- Engineering and Physical Sciences Research Council [EP/I000623/1] Funding Source: researchfish
- The Sir Jules Thorn Charitable Trust [09JTA] Funding Source: researchfish
- EPSRC [EP/I000623/1] Funding Source: UKRI
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Current methods for sequencing clonal populations of DNA molecules yield several gigabases of data per day, typically comprising reads of <100 nt. Such datasets permit widespread genome resequencing and transcriptome analysis or other quantitative tasks. However, this huge capacity can also be harnessed for the resequencing of smaller (gene-sized) target regions, through the simultaneous parallel analysis of multiple subjects, using sample tagging or indexing. These methods promise to have a huge impact on diagnostic mutation analysis and candidate gene testing. Here we describe a software package developed for such studies, offering the ability to resolve pooled samples carrying barcode tags and to align reads to a reference sequence using a mutation-tolerant process. The program, Illuminator, can identify rare sequence variants, including insertions and deletions, and permits interactive data analysis on standard desktop computers. It facilitates the effective analysis of targeted clonal sequencer data without dedicated computational infrastructure or specialized training. (C) 2011 Elsevier Inc. All rights reserved.
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