Validation of a comprehensive genomic profiling assay

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Validation of a comprehensive genomic profiling assay
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A new research paper titled 'Analytic validation of NeXT Dx, a comprehensive genomic profiling assay' has been published in Oncotarget.

Correlation between observed AF and expected AF for 401 cancer-associated genes in a tumor tissue sample diluted with the corresponding normal specimen. Credit:A new research paper titled"Analytic validation of NeXT Dx, a comprehensive genomic profiling assay" has been published inIn this new research paper, researchers Juan-Sebastian Saldivar, Jason Harris, Erin Ayash, Manqing Hong, Prateek Tandon, Saloni Sinha, Patricia Miranda Hebron, Erin E. Houghton, Kaleigh Thorne, Laurie J.

Proprietary methods were utilized to perform whole exome and whole transcriptome sequencing for detection of single nucleotide variants , insertions/deletions , copy number alterations , and gene fusions, and determination of tumor mutation burden and microsatellite instability. Variant calling is enhanced by sequencing a patient-specific normal sample from, for example, a blood specimen.

NeXT Dx features the proprietary Accuracy and Content Enhanced technology, developed to optimize sequencing and provide more uniform coverage across the exome. The exome was validated at a median sequencing depth of >500x. While variants from 401 cancer-associated genes are currently reported from the assay, the exome/transcriptome assay is broadly validated to enable reporting of additional variants as they become clinically relevant.

The researchers explain,"By more comprehensively characterizing the molecular characteristics of each patient's tumor, NeXT Dx provides personalized recommendations critical to clinical decision-making with respect to current FDA-approved drug-variant specific treatments and evolving treatment opportunities via enrollment in

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