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.
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
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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
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:
Our proprietary genome analysis platform starts with variant calling (if needed)
The second step is variant annotation, using hundreds of annotation sources, including our proprietary database of pathogenic and control mutations (> 16 million annotated variants)
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.
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.
They write a custom discussion for every candidate variant, explaining how the variant could contribute to the symptoms.
The report is signed by a board-certified medical geneticist (MD) and returned as a PDF file.Download Report
Please enter your name and email address to download a sample report: