DiscoverSeq - Targeted Exome Sequencing
A next generation sequencing (NGS)-based assay of 358 cancer-associated genes
Testing can be integrated into your preclinical study plan or it can be used opportunistically to query unique biological events.
- Compare vehicle and reference compound arms to experimental treatment arms
- Evaluate the differences between non-responsive and responsive tumors in a single study arm
The pipeline is able to detect multiple molecular alternations of and allele frequency of ≥5%. The alteration types include:
- Single nucleotide variations (SNVs) at >=5% allele frequency
- Insertions and deletions (Indels) up to 50-bp in length at >=5% allele frequency
- Gene-level copy number variations (CNVs)
Whole Exome Sequencing
Sequencing of the whole exome for a comprehensive assessment of coding variation
Testing can be integrated into your preclinical study plan or it can be used opportunistically to query unique biological events.
- Compare vehicle and reference compound arms to experimental treatment arms
- Evaluate the differences between non-responsive and responsive tumors in a single study arm
The pipeline is able to detect multiple molecular alternations including:
- Single nucleotide variations (SNVs)
- Insertions and deletions (indels)
Whole Transcriptome Sequencing
RNA-seq based transcriptome analysis of cancer progression and response to pharmaceuticals
Testing can be integrated into your preclinical study plan or it can be used opportunistically to query unique biological events.
- Compare vehicle and reference compound arms to experimental treatment arms
- Evaluate the differences between non-responsive and responsive tumors in a single study arm
The readouts from this pipeline include:
- Transcript quantification
- Pre vs. post treatment differential expression (Fold change and significance levels)
- Control vs. treatment group differential expression (Fold change and significance levels)
Data Processing
To aid functional interpretation, detailed annotations of variants based on a number of genomic, functional, and population datasets including dbSNP, COSMIC, Ensembl, UCSC, the 1000 Genomes project, NHLBI Exome Sequencing Project (ESP), the Exome Aggregation Consortium (ExAC), PolyPhen, SIFT, PhyloP, and many more will be provided.