Miller Lab

Around 50% of individuals with a suspected genetic disorder remain undiagnosed after a complete clinical evaluation, which often takes years to complete. We believe this burden on patients and families is simply too high. In the Miller Lab, our goals are threefold: to improve the efficiency and effectiveness of genetic testing, to expand access to genetic testing, and to better understand human genetic disease through the identification and characterization of novel disease-causing variation.

Explore Our Research

Unsolved genetic disorders

We are interested in understanding why 50% of individuals with a suspected genetic disorder remain unsolved after a complete clinical evaluation. Using long-read DNA and RNA sequencing, we identify disease-causing variants that would be difficult or impossible to resolve using standard clinical testing. We are always happy to collaborate, so reach out if you have a challenging unsolved case.

Clinical applications of long-read sequencing

Standard clinical genetic testing can take years to complete and is diagnostic only 50% of the time. It's a challenging process often referred to as the diagnostic odyssey. We are working to change this paradigm by using long-read sequencing as a single test in the clinical setting. Our efforts extend beyond the genetics clinic into spaces such as cancer biology and infectious disease.

Structural variation

A major challenge when analyzing long-read sequencing data is interpreting all of the structural variants that are found. In collaboration with Oxford Nanopore and PacBio, we performing DNA and RNA sequencing of a most of hte 1000 Genomes Project samples to understand what normal human structural variation looks like and to build a database of controls for everyone to use. Check out the 1KGP LRS Sequencing Consortium page for more information.

Methylation

Because long-read sequencing data contain signal for both the DNA sequence and methylation status, we can identify differences in methylation in unsolved cases and healthy controls. We are building tools to identify differences in methylation genome-wide and understand what methylation looks like in a large number of healthy controls.

Genome assembly and analysis

This is how we got into Nanopore sequencing! We are always interested in sequencing and assembling genomes from all critters big and small. We're part of a large group working on sequencing all of the species in the Drosophila species group, and we're interested in all types of genome assembly projects.