See below for answers to frequently asked questions regarding our human genome interpretation systems and services.
What sequence data does Knome’s genome interpretation engine accept?
Our informatics engine accepts sequence data from all major sequencing platforms, including Ilumina, Complete Genomics, and Life Technologies.
What types of customers does Knome have?
Our clients are primarily medical, pharmaceutical, and academic researchers.
What kinds of research questions can Knome help answer?
Broadly speaking, we can help answer any question that involves trying to trace known human phenotypic variation to known or unknown sequence variation in the genome. The phenotypic/genotypic variation in question may distinguish one person from another (as in many diseases or adverse reactions), or one tissue from another within the same person (as in tumors).
How is Knome different than sequencing platform companies?
Our core strength is in providing whole genome downstream interpretation services. Knome is “platform agnostic,” meaning that we accept sequencing data produced by the major commercially available sequencing platforms–including Illumina, Complete Genomics, and Life Technologies.
Does Knome provide its services to researchers outside the USA?
Yes, we work closely with researchers in over two dozen countries.
Can Knome provide a service quote to build into my grant application?
Yes, we are happy to provide service quotes and other documentation to supplement researchers’ grant applications.
Do you provide any cancer-related interpretation?
Yes, we have recently completed several cancer-related projects and have developed specialized cancer-related enhancements to our pipeline. Please contact us for additional details.
Do you provide sequencing services—like Illumina or Complete Genomics?
We outsource sequencing. We focus our technologists on informatics and building human genome interpretation tools. That said, we have extensive experience in managing sequencing projects for our clients. This experience is valuable as we know how to avoid common pitfalls and “rookie errors.”
Does Knome report on indel variation?
Yes, our calling algorithms allow increasingly precise characterization of insertion/deletion variation in the human genome.
Does exome interpretation yield useful data on parts of the
genome outside the exome?
Yes, exome capture methods typically greatly enrich the pool of sequenced DNA for exonic regions, but still carry many copies of non-exonic segments of the genome.
Can Knome compare the genomes of cells from different (e.g., tumor versus non-tumor) tissues in the same person?
Yes, we are able to compare the genomes of cells from different tissues in the same person.
Can Knome take care of the ‘background intrepretations’ of exomes and genomes for participants in my research study?
Yes, we have the staff, expertise, and automated tools needed to generate basic health profiles for every participant in a sequencing-based research study, letting you focus your energy fully on questions directly related to the main phenotype under study. Knome’s valuable background interpretation avoids wasting the wealth of data generated by high-throughput individual genome sequencing and can add useful incentives for both affected and healthy people to participate in your study.
For what variants do you look?
Our tools can identify short substitutions, insertions, and deletions, as well as segmental copy number variants, inversions, translocations, and other long structural variants. Moreover, we call and report complex variants, such as tandem substitutions that may be annotated as separate dbSNP entries, but together as one variant in a particular genotype-phenotype association paper; mitochondrial and HLA haplotypes (called inferentially, by arrangement), relevant in many phenotype studies; etc.