Do-it-yourself genetic testing

Center for Bioinformatics and Computational Biology, University of Maryland, College Park, MD 20742, USA. .
Genome biology (Impact Factor: 10.47). 10/2010; 11(10):404. DOI: 10.1186/gb-2010-11-10-404
Source: PubMed

ABSTRACT We developed a computational screen that tests an individual's genome for mutations in the BRCA genes, despite the fact that both are currently protected by patents.

  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Next-generation sequencing technologies are increasingly being applied in clinical settings, however the data are characterized by a range of platform-specific artifacts making downstream analysis problematic and error prone. One major application of NGS is in the profiling of clinically relevant mutations whereby sequences are aligned to a reference genome and potential mutations assessed and scored. Accurate sequence alignment is pivotal in reliable assessment of potential mutations however selection of appropriate alignment tools is a non-trivial task complicated by the availability of multiple solutions each with its own performance characteristics. Using BRCA1 as an example, we have simulated and mutated a test dataset based on Illumina sequencing technology. Our findings reveal key differences in the performances of a range of common commercial and open source tools and will be of importance to anyone using NGS to profile mutations in clinical or basic research.
    01/2012; 1:2. DOI:10.12688/f1000research.1-2.v1
  • Source
    Brazilian Journal of Medical and Biological Research 04/2011; 44(4):268-275. DOI:10.1590/S0100-879X2011007500031 · 1.03 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: The effects of genomic medicine on child health promise to be profound. Medical applications will eventually include characterizing patients' genomes to detect predictive mutations for pre-symptomatic counseling where treatment exists; to search for causes of diseases of unknown etiology, and to detect carriers for prenatal counseling; to define cancer and other disease-based genomes to design individualized therapy; and to understand our microbiomes to modify these in health and disease. Rapid advances in technology and bioinformatics have reduced the cost and the time and increased the accuracy necessary to sequence whole genomes or whole exomes. However, complete understanding of disease will also require correlation of genomic information with high-quality phenotypic data. In addition, several critical ethical, psycho-social, and public policy issues will require clarity in the coming years. Ultimately these advances will improve the effectiveness of health care for children and for society.
    07/2011; 2(3):e0053. DOI:10.5041/RMMJ.10053

Preview (2 Sources)

Available from