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Designing and Implementing NGS Tests for Inherited Disorders

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Year: 2018
Type: article
Source: Journal of Molecular Diagnostics
DOI: 10.1016/j.jmoldx.2018.11.004
Authors: Avni Santani, Birgitte B. Simen, Marian Briggs, Matthew Lebo, Jason D. Merker, Marina Nikiforova, Patricia Vasalos, Karl Voelkerding, John Pfeifer, Birgit Funke
Institutions: Children's Hospital of Philadelphia, University of Pennsylvania, Veritas (United States), College of American Pathologists, Brigham and Women's Hospital, Harvard University, University of North Carolina at Chapel Hill, UNC Lineberger Comprehensive Cancer Center, University of Pittsburgh, University of Pittsburgh Medical Center, University of Utah, ARUP Institute for Clinical and Experimental Pathology, Washington University in St. Louis, Massachusetts General Hospital
Language: English

Topic: Genomics and Rare Diseases
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: bronze
OpenAlex ID: W2906913602
FWCI: 1.666
Cites: 12
Cited by: 28
Related to: 10
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