This is unpublished


Basic Molecular Genetics and Developmental Genetics
Clinical Genetics
Computational Genetics
Genetics of Aging
Genome Research
Human Molecular and Developmental Genetics
Assistant Professor, Medical Genetics
Adjunct Assistant Professor, Genome Sciences
Sites of Practice
UW Adult Genetics Clinic


Dr. Stergachis is board certified in both Clinical Genetics as well as Internal Medicine. Dr. Stergachis’ research and clinical practice investigate how alterations in the human genome impact human health and disease. He received his BS in Biochemistry with honors from the University of Chicago, and joined the University of Washington Medical Scientists Training Program (MSTP) in 2007, where he completed his PhD in Genome Sciences. After graduating from the University of Washington Medical School, he completed a combined residency in Internal Medicine and Medical Genetics and Genomics at the Brigham and Women’s Hospital/Harvard Medical School. A Seattle native, Dr Stergachis returned to the Division of Medical Genetics at the University of Washington in 2020.

Education & Training

Residency in Medical Genetics and Genomics, Harvard Medical School, Boston, MA (2020)

Residency in Internal Medicine, Brigham and Women’s Hospital, Boston, MA (2020)

MD, University of Washington, Seattle, WA (2015)

Ph.D. in Genome Sciences, University of Washington, Seattle, WA (2013)


American Society for Clinical Investigation (ASCI) Young Physician-Scientist Award (2023)

Pew Biomedical Scholars Program (2022)

Fialkow Scholar Award (2022)

Fellow of the American College of Medical Genetics and Genomics (FACMG) (2022)

Brotman Baty Institute for Precision Medicine (BBI) Catalytic Collaborations Grant (2021)

NIH Director's Early Independence Award (2020)

Burroughs Wellcome Career Awards for Medical Scientists (2020)

Alpha Omega Alpha (2014)

Harold M. Weintraub Graduate Student Award (2014)

Charles J. Epstein Award for Excellence in Human Genetics Research (2013)

Ruth L. Kirschstein Individual National Research Service Award, NIDDK (2012)

Turner Society Endowed Fellowship (2009)

Howard Hughes Undergraduate Research Fellowship (2006)

Research Interests


Our group is motivated by the question of how alterations in gene regulation contribute to human disease. Genomics is rapidly emerging as a cornerstone of medicine, yet our current understanding of the human genome remains largely limited to only 1% of the genome, which is the portion that codes for proteins. By contrast, genetic changes in the other 99% of the human genome that alter when and where proteins are produced remain poorly understood. Our group aims to overcome this challenge by developing and applying novel epigenomic tools to study the impact of non-coding and epigenetic variation on human disease.

Clinical Interests

Dr. Stergachis sees patients in the UW Adult Genetics Clinic as well as the UW Cardiovascular Genetics Clinic, and has a broad clinical interest.



Stergachis, AB., Debo, BM., Haugen, E., Churchman, LS., Stamatoyannopoulos, JA., (2020) Single-molecule regulatory architectures captured by chromatin fiber sequencing, Science, 368, 1449-54

Stergachis, AB., Weiss, ST., Green, RC., (2020) Biobanks could identify medically actionable findings relevant for COVID-19 Clinical Care, Nature Medicine26, 991

Stergachis, AB., Mogensen, KM., Khoury, CC., Lin, AP., Peake, RWA., Baker, JJ., Barkoudah, E., Sahai, I., Sweetser, DA., Berry, GT., Krier, JB. (2020) A retrospective study of adult patients with non-cirrhotic hyperammonemia, Journal of Inherited Metabolic Disease43, 1165–1172

*Stergachis, AB., *Pujol-Giménez, J., Gyimesi, G., Fuster, D., Albano, G., Troxler, M., Picker, J., Rosenberg, PA., Bergin, A., Peters, J., El Achkar, CM., Harini, C., Manzi, S., Rotenberg, A., Hediger, MA., Rodan, LH. (2019) Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. Annals of Neurology85, 921-926

Li, GZ., Tio, MC., Pak, LM., Krier, J., Tullius, SG., Riella, LV., Malek, SK., Stergachis, AB., (2019) Non-Cirrhotic Hyperammonemia after Deceased Donor Kidney Transplantation: A Case Report. American Journal of Transplantation, 19, 3197–3201

*Stouffs K, *Stergachis AB., Vanderhasselt T, Dica A, Janssens S, Vandervore L, Gheldof A, Bodamer O, Keymolen K, Seneca S, Liebaers I, Jayaraman D, Hill HE, Partlow JN, Walsh CA, Jansen AC. (2018) Expanding the clinical spectrum of biallelic ZNF335 variants. Clin Genet. 94, 246-251

*Stergachis, AB., *Neph, S., Sandstrom, R., Haugen, E., Reynolds, A.P., Zhang, M., Byron, R., Canfield, T., Stelhing-Sun, S., Lee, K., Thurman, R.E., Vong, S., Bates, D., Neri, F., Diegel, M., Giste, E., Dunn, D., Vierstra, J., Hansen, R.S., Johnson, A.K., Sabo, P.J., Wilken, M.S., Reh, T.A., Treuting, P.M., Kaul, R., Groudine, M., Bender, M. A., Borenstein, E. and Stamatoyannopoulos, J. A. (2014) Conservation of trans-acting circuitry during mammalian regulatory evolution. Nature515, 365-70

Stergachis, AB., Haugen, E., Shafer, A., Fu, W., Vernot, B., Reynolds, A., Raubitschek, A., Ziegler, A., LeProust, E. M., Akey, J. M., Stamatoyannopoulos, J. A., (2013) Exonic transcription factor binding directs codon choice and affects protein evolution. Science 342, 1367-1372

*Stergachis, AB., *Neph, S., Reynolds, A., Humbert, R., Vernot, B., Miller, B., Thurman, R.E., Sandstrom, R., Haugen, H., Akey, J.M., and Stamatoyannopoulos, J.A. (2013) Developmental fate and cellular maturity encoded in human regulatory DNA landscapes. Cell 154, 888-903

*Neph, S., *Stergachis, AB., Reynolds, A., Sandstrom, R., Borenstein, E., and Stamatoyannopoulos, J. A. (2012). Circuitry and Dynamics of Human Transcription Factor Regulatory Networks. Cell 150, 1274–1286.

*Neph, S., *Vierstra, J., *Stergachis, AB., *Reynolds, A. P., Haugen, E., Vernot, B., Thurman, R. E., John, S., Sandstrom, R., Johnson, A. K., et al. (2012). An expansive human regulatory lexicon encoded in transcription factor footprints. Nature 489, 83–90.

Stergachis, AB., MacLean, B., Lee, K., Stamatoyannopoulos, J. A., and MacCoss, M. J. (2011). Rapid empirical discovery of optimal peptides for targeted proteomics. Nature Methods 8, 1041–1043.