Clinical Exome Sequencing Workflow

Gene List and Enhanced Coverage

Ninety-eight percent of the protein-coding sequence of all current clinically-offered genes are assessed by this single test. Mitochondrial genes are not specifically captured by any of the commercially-available exome capture kits. However, because the mitochondrial genome is present at much higher copies than the nuclear genome, 99% of the protein-coding sequence of all mitochondrial genes is assessed as well by our clinical exome sequencing test. Gene List and Enhanced Coverage.

Genomic Data Board

Our approach to data interpretation is unparalleled. Raw data is filtered through our bioinformatics pipeline and variants are selected for review by our Genomic Data Board. Our Board is comprised of an interdisciplinary team of professionals and includes input from the patient's clinician. Our Board's expertise and experience assures the most thorough evaluation of each patient's data.

Industry Resources

Literature Resources

  1. Koboldt, Daniel C. (2010) Challenges of sequencing human genomes. Briefings in Bioinformatics
  2. Metzker, Michael L. (2010) Sequencing technologies - the next generation. Nat Rev Genet
  3. Choi M, Scholl U, Ji Welzhen, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloglu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, and Lifton RP. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. PNAS. 2009 Nov. 106: 19096-19101.