Exome sequencing data

Delve deeper into a wide range of our reference standards 

 

Browse our high quality whole exome NGS data sets. Download variant caller format (VCF) files for our NGS products in both gDNA and cfDNA formats to detect false positives and confirm true positives in your own data sets. See our blog on how this data was generated and how you can use it.
VCFs are large (>200MB) text-based files that can be opened using your favorite bioinformatic analysis software (e.g. bedtools, VCFtools, etc.). Alternatively, they can be unzipped using a tool like 7-Zip and then opened using a text editor (e.g. Sublime Text, Notepad++, etc.). Our FFPE and parental cell line data is downloadable in an excel format.

 

gDNA reference standards

Catalog number Description HG19 exome data HG38 exome data 
HD802 EGFR Gene-Specific Multiplex Download Download
HD753 Structural Multiplex Download Download
HD793 BRCA Germline I Download Download
HD795 BRCA Somatic Multiplex I Download Download
HD829 Myeloid Download Download
Catalog number Description HG19 exome data HG38 exome data
HD752 Tru-Q 0 (100% Wildtype) Download Download
HD728 Tru-Q 1 Download Download
HD729 Tru-Q 2 Download Download
HD730 Tru-Q 3 Download Download
HD731 Tru-Q 4 Download Download
HD734 Tru-Q 7 Download Download

 

FFPE reference standards

Catalog number Description Exome data file 
HD200 Quantitative Multiplex Download data
HD300 KRAS Quantitative Multiplex Download data
HD301 5% EGFR Quantitative Multiplex Download data

 

cfDNA reference standards

Catalog number Description HG19 exome data HG38 exome data 
HD780 Multiplex I cfDNA set (contains HD776 and HD777)  
HD776 100% Multiplex I Wild Type Download Download
HD777 5% Multiplex I Download Download

 

Parental cell line exome data

Our singleplex products contain your variant of interest in a specified parental cell background, the exome data lists the additional endogenous variants you may detect when analyzing these standards.

Parental cell line Exome data file 
RKO Download data
SW48 Download data
HCT116 Download data