Clinical diagnosis by whole-genome sequencing of a prenatal sample.

  title={Clinical diagnosis by whole-genome sequencing of a prenatal sample.},
  author={Michael E Talkowski and Zehra Ordulu and Vamsee K Pillalamarri and Carol B. Benson and Ian Blumenthal and Susan H Connolly and Carrie Hanscom and Naveed Hussain and Shahrin Pereira and Jonathan D. Picker and Jill A Rosenfeld and Lisa Gail Shaffer and Louise E Wilkins-Haug and James F. Gusella and Cynthia C Morton},
  journal={The New England journal of medicine},
  volume={367 23},
Conventional cytogenetic testing offers low-resolution detection of balanced karyotypic abnormalities but cannot provide the precise, gene-level knowledge required to predict outcomes. The use of high-resolution whole-genome deep sequencing is currently impractical for the purpose of routine clinical care. We show here that whole-genome "jumping libraries" can offer an immediately applicable, nucleotide-level complement to conventional genetic diagnostics within a time frame that allows for… CONTINUE READING
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