Development and validation of the JAX Cancer Treatment Profile™ for detection of clinically actionable mutations in solid tumors.

Guruprasad Ananda,Susan Mockus,Micaela Lundquist,Vanessa Spotlow,Al Simons,Talia Mitchell,Grace Stafford,Vivek Philip,Timothy Stearns,Anuj Srivastava,Mary Barter,Lucy Rowe,Joan Malcolm,Carol Bult,Radha Krishna Murthy Karuturi,Karen Rasmussen,Douglas Hinerfeld

Experimental and Molecular Pathology（2015）

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摘要

•Using NGS, the JAX-CTP™ detects potentially actionable mutations in 190 genes.•The JAX-CTP™ accurately detects SNPs, small indels and gene-level CNVs.•The JAX-CTP™ accurately detects variants at a 10% allele frequency.•DNA is analyzed from macrodissected FFPE tumor specimens.

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关键词

Cancer,Actionable,Mutation,Panel,FFPE

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