Sequence Variant Interpretation 2.0: Perspective on New Guidelines for Sequence Variant Classification
نویسندگان
چکیده
منابع مشابه
Sequence Variant Interpretation 2.0: Perspective on New Guidelines for Sequence Variant Classification.
Diagnostic tests based on next-generation sequencing (NGS), including gene-panel, exome, and wholegenome sequencing, are routinely performed worldwide. Although the technical validity of NGS-based tests continues to improve rapidly, the community is working to demonstrate the clinical validity and utility of these methods, which largely depend on our ability to interpret all sequence variants i...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2015
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2015.240812