Interpretation Services

As a clinical geneticist, you want to spend time on patients and on research, not on filtering variants or struggling with bioinformatics pipelines.

Diploid offers an end-to-end interpretation service, starting from NGS data (BAM or VCF) and returning a clinical report signed by a board-certified clinical geneticist (MD). No need to maintain bioinformatics pipelines or fiddle with software. At the same time, you retain full control over the diagnostic procedure.

Try Now For Free

Why Diploid?



Among the very best worldwide in the Genomics England contest

Patent pending software platform that learns from previously solved cases

Automatically scans the literature for new associations using text mining algorithms

Includes specific in silico predictions for variants located in splice site regions

Not limited to coding regions: leveraging ENCODE to include non-coding regions in our analyses

Includes secondary findings according to the ACMG guidelines (upon request)

Proprietary database of pathogenic and control mutations (> 16 million annotated variants)

Reports always signed by both an MD with specialisation in clinical genetics and by a PhD in molecular genetics

Reports delivered as PDF files with click-through links for references and external data sources (e.g. OMIM, dbSNP, ClinVar, etc)

Consistently solving more cases than the competition

Order today, receive
results before:





Standard turn around time of 14 business days - faster than any other company

Fast-track service going from data to report in 7 business days, unseen in our industry



Prices start at $550 USD (€490 EUR) for a single exome or whole genome

Significant volume discounts are available, contact us for a custom quote

Outsourcing genome interpretation to us costs about 50-65% less than doing it in-house



Data centre received ISO27001 certification and completed multiple SAS70 Type II audits

256-bit SSL encryption for all data both in storage and in transit

Fully HIPAA compliant



Reopening cases for free when new medical information becomes available

Geneticists and MDs are available to answer any questions

Guaranteed response within 1 business day

How it works

Diploid combines expertise in bioinformatics and software engineering with world-class experience in rare disease diagnostics. The result is a procedure that is partly automated, partly manual to ensure clinical reports of the highest quality.

When NGS data comes in:

Variant calling

Our proprietary genome analysis platform starts with variant calling (if needed)

Variant annotation

The second step is variant annotation, using hundreds of annotation sources, including our proprietary database of pathogenic and control mutations (> 16 million annotated variants)

Phenotypic data

After quality checks, our geneticist enter phenotypic data for this case and our platform automatically compiles a list of genes that have been associated with any of the symptoms.

Filtering variants

Our geneticists then filter the list of variants based on our rich annotation. Out of tens of thousands of variants, they retain about 1-3 variants that are most likely to cause the phenotype in the patient.

Write report

They write a custom discussion for every candidate variant, explaining how the variant could contribute to the symptoms.

Signed report

The report is signed by a board-certified medical geneticist (MD) and returned as a PDF file.

Download Report

Try it for free

You don't have to take our word for it: we offer hospitals, commercial labs or researchers a free first interpretation of a clinical sample. See for yourself why leading research institutes and genetics labs are outsourcing their genome interpretations to us.

Try now