GenomeDiver — enhancing medical genomics diagnostics

Reverse phenotyping for medical genomics

Challenges in genomics diagnostics

Even when we sequence their whole genome, we make a diagnosis in only a minority of our patients.

A major factor is how current genomic diagnostic processes fail to foster what should be a central role of the clinician in the diagnostic process.

The clinician typically provides only sparse phenotypic information about the patient to the diagnostic laboratory.

In return, the clinician receives complex and frequently ambiguous results from the laboratory for interpretation.

Care providers have only one chance to convey limited phenotypic information, often unstructured.

There is no opportunity for dialogue between the laboratory and the clinical care team based on findings in the genomic sequence.

GenomeDiver enhances the ability of the clinician to diagnose genetic conditions.

The GenomeDiver solution

Clinicians are guided to provide relevant phenotypic information to the laboratory. 
The laboratory learns more about the clinician’s insights into their patient. 

The four GenomeDiver steps to diagnosis

1 - Phenotypic feature analysis

Using the patient’s genomic information and indication for testing, GenomeDiver lists the phenotypic features most likely to help diagnostically.

2 - Reverse phenotyping

The clinician categorizes this list of phenotypic features as Present, Absent or Uncertain in their patient.

3 - Disease assessment

This enhanced phenotypic information is used to re-prioritize variants, allowing candidate genes and diseases to be assessed by the clinician.

4 - Laboratory communication

The updated, enhanced phenotypic information and the clinician’s assessment are returned to the diagnostic laboratory to help develop a final report.

The GenomeDiver workflow

Insights into the four steps from data to diagnosis.

The GenomeDiver interface

What the clinician sees when they use GenomeDiver.

GenomeDiver credits

GenomeDiver was developed with NIH support (NHGRI and NIMHD) as part of the CSER consortium at our NYCKidSeq Center, involving development by Einstein-Montefiore, the NY Genome Center and Icahn School of Medicine at Mount Sinai.

GenomeDiver publications
2021 Genetics in Medicine (in press, preprint available)

GenomeDiver software availability
Open source, available on GitHub


John M. Greally

Project Leader

Toby Bloom

Project Co-Leader

Nathan Pearson

Bioinformatics Lead

Kevin Shi

Software Engineer


Charles Gagnon

Software Engineering Supervision

Faygel Beren

Junior Project Manager

Christian Stolte


Join our mailing list for news and updates on GenomeDiver.

Get Updates

If you are interested in testing GenomeDiver or collaborating with us, please contact us.

Write to us