Genome, Transcriptome and Additional Services

Advanced variant discovery and annotation

Genome, Transcriptome & Additional Services 2016-12-03T06:23:57+00:00

Genome, Transcriptome, and Additional Services

Ideal for researchers seeking the most comprehensive and accurate genome, transcriptome, and other services for human genomic research.

Whole Genome Sequencing (WGS) and Analysis

Whole Genome Sequencing is performed on Illumina® platforms with a minimum of 2 x 100 paired reads. Sequence data is aligned and variants are called and annotated using the Personalis advanced variant discovery and annotation engine. Read more about the Personalis ACE Platform™.

Configurations Offered

30x WGS
Whole Genome Sequencing using Illumina TruSeq™ chemistry. Average of 30x coverage of more than 90% of the genome (>110 Gbp).
60x WGS
Whole Genome Sequencing using Illumina TruSeq chemistry. Average of 60x coverage of more than 90% of the genome (>220 Gbp).
WGS AnalysisOnly
For customers with existing whole genome data, we can utilize our advanced variant calling and annotation capabilities to extract the best results from your data.
Broadest, most optimized exome platform available for research

Transcriptome Sequencing

RNA-Seq is performed on Illumina platforms with a minimum of 2 x 100 paired reads (25 or 50 million reads).

Nucleic Acid Extraction

Personalis laboratory personnel have extensive experience working with many sample types, including blood, saliva and FFPE (formalin-fixed paraffin-embedded) samples. We routinely work with customers to get the optimal results from challenging samples.

Biomedical Analysis and Interpretation

In addition to comprehensive variant annotations, Personalis can provide interpretive research reports for a wide variety of study types (from large case control studies to proband or family studies) and study areas (common disease, Mendelian disease, pharmacogenomics, and cancer). Our analyses benefit from the robust upstream sequencing, alignment, and variant calling technologies, in addition to the comprehensive variant annotations we employ.

Research Study Design

Personalis’ Ph.D. scientists can assist you with study design, including power calculations, sample selection, identification of matched controls, and analysis plan. We can work with you on a variety of study types, and provide the level of support needed for you to accomplish your research objectives.