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6 results
  1. NLM Digital Collections - Rare diseases. Although limited, available evidence suggests medical and other costs can be ... 
    Publication: Washington, DC : United States Government Accountability Office, October 2021
    resource.nlm.nih.gov/9918383083506676
    ... that they are "not medically necessary." For example, whole exome sequencing-a method for identifying variations in the protein- ... do not have the disease). 29In one study, whole exome sequencing was provided to undiagnosed patients participating in a ...
  2. NLM Digital Collections - Epilepsies in children and young people : investigative procedures and management : a ... 
    Publication: Edinburgh, Scotland : Scottish Intercollegiate Guidelines Network (SIGN), May 2021
    resource.nlm.nih.gov/9918334378406676
    ... a genetic cause using gene panel | testing or whole exome sequencing, between 18% and 38% will have a causative ... al. Practical considerations in the clinical application of whole-exome sequencing. Clin Genet. 2016;89(2):173-81. Soden ...
  3. NLM Digital Collections - Considerations for design, development, and analytical validation of next generation ... 
    Publication: Silver Spring, MD : Center for Drug Evaluation and Research, April 13, 2018
    resource.nlm.nih.gov/101734092
    ... analytical validity of NGS-based tests used for whole exome human DNA sequencing (WES) or targeted human DNA sequencing intended to ...
  4. NLM Digital Collections - Assessment, diagnosis and interventions for autism spectrum disorders : a national clinical ... 
    Publication: Edinburgh, Scotland : Scottish Intercollegiate Guidelines Network (SIGN), June 2016
    resource.nlm.nih.gov/101714471
    ... such as microarray comparative genomic hybridisation (CGH), whole exome and whole genome sequencing. However, the clinical judgement to understand how to ...
  5. NLM Digital Collections - Three Decades of Wnts: A Personal Perspective on How a Scientific Field Developed 
    Publication: European Molecular Biology Organization., [13 June 2012]
    resource.nlm.nih.gov/101584926X497
    ... or (as more recently documented by next generation sequencing of whole exomes or whole genomes) by point mutations (http://www. ...
  6. NLM Digital Collections - Use of public human genetic variant databases to support clinical validity for genetic and ... 
    Publication: Silver Spring, MD : Center for Devices and Radiological Health, April 13, 2018
    resource.nlm.nih.gov/101734132
    ... as NGS, can enable rapid, broad, and deep sequencing of a portion of a gene, an entire exome(s), or a whole genome and may be used clinically for a ...