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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 #

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