Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine
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Summary #
Introduction #
Results #
WES of FFPE samples #
FFPE and fresh frozen samples yield comparable WES results #
Clinical analysis and interpretation of WES data #
WES and clinically actionable events across cancers #
The use of WES in clinical decision making #
Discussion #
Methods #
Patient samples #
Rapid formalin-fixed, paraffin-embedded sequencing #
DNA assembly and quality control #
Somatic alteration identification and annotation #
Cross-validation of formalin-fixed, paraffin-embedded and fresh frozen mutation data #
Clinical gene database (TARGET ) #
Somatic heuristic algorithm for interpretation (PHIAL) #
Visual representation #
Curation #
Clinical trial data analyses #
CLIA validation #
Ba/F3 experimental methods #
Statistical analysis #
Accession codes #
Suggested Pages #
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