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University of Washington   |   Department of Pediatrics   |   Department of Laboratory Medicine & Pathology

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 promote equity in genetic testing by reducing barriers to receiving a comprehensive genetic evaluation, and to better understand human genetic disease through the identification and characterization of novel disease-causing variation.


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OUR TEAM


Danny

Danny Miller, MD, PhD, FACMG

Principal Investigator

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Dr. Miller is a physician-scientist who specalizes in understanding the genetic basis of disease. His research applies new technology such as long-read sequencing (LRS) to improve genetic testing and reduce diagnostic times, with an emphasis on using these tools to understand how complex genomic variation contributes to disease. Dr. Miller’s work encompasses evaluating genes linked to Mendelian conditions, identifying missing disease-causing variation, and implementing LRS into current clinical practice. He has assembled and analyzed genomes from multiple organisms and developed tools for LRS data analysis both at the population level and for rare genetic conditions. His lab is dedicated to simplifying diagnostic testing and improving patient outcomes through innovative LRS-based clinical tests, with a strong commitment to data sharing and collaboration.


Zach

Zach Anderson

Research Assistant

Nikhita

Nikhita Damaraju, MS

PhD Student, Public Health Genetics

Sophie

Sophie Gibson

PhD Student, Genome Sciences

Joy

Joy Goffena, MS

Lab Manager

Pankhuri

Pankhuri Gupta

Research Genetic Counselor

Gus

J. (Gus) Gustafson

PhD Student, Molecular & Cellular Biology

Kelsey

Kelsey Kanavel

Master's Student, Genetic Epidemiology

Bernhard

Bernhard Kayser, PhD

Visiting Scientist

Angie

Angie Miller

Research Coordinator

Sophie S

Sophie Storz

Research Scientist

Sydney

Sydney Ward

Research Scientist

Jianing

Jianing Xu, VMD

Veterinary Resident

Sunny

Sunny Ye

Master's Student, Laboratory Medicine

Miranda

Miranda PG Zalusky, MS

Computational Biologist






NEWS & VIEWS





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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, we are sequencing a large number of 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 1000G ONT Sequencing Consortium site for more information.
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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.

Long-read RNA sequencing

Sequencing of native RNA is just cool. We do RNA sequencing of our unsolved clinical cases and are interested in using long reads to identify tissue-specific isoforms and expression. Also, what are all those RNA modifications doing? Sequencing of native RNA from different tissues is going to be interesting.




Sequencing Services

SEQUENCING SERVICES

The Miller Lab operates the University of Washington Nanopore Sequencing Core, which provides long-read sequencing on the Oxford Nanopore Technologies (ONT) platform to researchers at UW, SCH, SCRI, FHCC, external institutions, and private companies. Services include whole-genome sequencing, RNA sequencing, variant calling and phasing, and methylation calling. If you are interested in long-read sequencing services, please visit the UW Nanopore Sequencing Core site for more information about sample preparation, options, and costs.



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PUBLICATIONS

2024
2023
2022
2021






SUPPORT

We are so very grateful for the generous support our research program receives from the following programs:

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NIH logo

NIH EIA logo

Kuni Foundation logo

Sanford Health logo

CURRENT FUNDING
  • Sanford Health
    Sanford Children’s Genomic Medicine Consortium Grant
    Jan 2024–Dec 2025 (PI)
  • Kuni Foundation
    Imagination Grant
    Jan 2024–Dec 2025 (Co-I)
  • University of Washington Department of Laboratory Medicine & Pathology
    Building Bridges Award
    July 2024–July 2025 (MPI)
  • National Institutes of Health
    TopMed (R01 HL165061)
    June 2023–May 2027 (Co-I)
  • National Institutes of Health
    NIH Director’s Early Independence Award (DP5 OD033357-01)
    Sept 2022–Aug 2027 (PI)
  • Brotman Baty Institute for Precision Medicine
    Establishment of a long-read sequencing cost center
    2021–2024 (PI)
PREVIOUS FUNDING
  • University of Washington Department of Laboratory Medicine & Pathology
    Building Bridges Award
    July 2023–July 2024 (MPI)
  • Brotman Baty Institute for Precision Medicine
    Catalytic Collaborations Award
    2022–2024 (MPI)
  • Brotman Baty Institute for Precision Medicine
    Catalytic Collaborations Award
    2021–2022 (PI)
  • Brotman Baty Institute for Precision Medicine
    Catalytic Collaborations Award
    2020–2021 (MPI)
MAKE A DONATION

We appreciate your interest in our research. If you would like to make a contribution to a Miller Lab study, please write a brief letter designating the funds to research by Danny E. Miller, MD, PhD, and indicate the study topic you wish to support. Include your name and address in the letter, and send it with a check or money order to:

Miller Laboratory, Department of Pediatrics
University of Washington
1959 NE Pacific Street, Box 356320
Seattle, WA 98195-6320