11/17/25, 11:11 AM GREGoR: accelerating genomics for rare diseases | Nature

nature perspectives article

Perspective Published: 12 November 2025

GREGoR: accelerating genomics for rare diseases

Moez Dawood , Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan LoTempio, Laurens
Wiel, Seth Berger, Jonathan A. Bernstein, Jessica X. Chong, Emmanuèle C. Délot, Evan E. Eichler,
James R. Lupski, Ali Shojaie, Michael E. Talkowski, Alex H. Wagner, Chia-Lin Wei, Christopher
Wellington, Matthew T. Wheeler, GREGoR Partner Members, Claudia M. B. Carvalho, Richard A.
Gibbs, Casey A. Gifford, Susanne May, Danny E. Miller, Genomics Research to Elucidate the Genetics
of Rare Diseases (GREGoR) Consortium Show authors

Nature 647, 331–342 (2025)

1900 Accesses 17 Altmetric Metrics

Abstract

Rare diseases are collectively common, affecting approximately 1 in 20 individuals

worldwide. In recent years, rapid progress has been made in rare disease diagnostics due
to advances in next-generation sequencing, development of new computational and
functional genomics approaches to prioritize genes and variants and increased global
sharing of clinical and genetic data. However, more than half of individuals suspected to
have a rare disease lack a genetic diagnosis. The Genomics Research to Elucidate the
Genetics of Rare Diseases (GREGoR) Consortium was initiated to study thousands of
challenging rare disease cases and families and apply, standardize and evaluate
emerging genomics technologies and analytics to accelerate their adoption in clinical
practice. Furthermore, all data generated, currently representing over 7,500 individuals
from over 3,000 families, are rapidly made available to researchers worldwide through
the Analysis, Visualization and Informatics Lab-space (AnVIL) to catalyse global efforts
to develop approaches for genetic diagnoses in rare diseases. Most of these families
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11/17/25, 11:11 AM GREGoR: accelerating genomics for rare diseases | Nature

have undergone previous clinical genetic testing but remained unsolved, with most
being exome-negative. Here we describe the collaborative research framework, datasets
and discoveries comprising GREGoR that will provide foundational resources and
substrates for the future of rare disease genomics.

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Genomic reanalysis of a Solving patients with rare Rare disease gene

pan-European rare-disease diseases through association discovery in
resource yields new programmatic reanalysis the 100,000 Genomes
diagnoses of genome-phenome data Project

Article Open access Article Open access Article Open access

17 January 2025 01 June 2021 26 February 2025

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Acknowledgements

We thank all of the patient participants and their families; and the expansive set of
collaborators, including clinical providers, analysts and rare disease researchers.
Support for title page creation and format was provided by AuthorArranger, a tool
developed at the National Cancer Institute. This work was supported by the NIH NHGRI
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GREGoR Consortium (U01HG011758, U01HG011755, U01HG011762, U01HG011745,

U01HG011744, U24HG011746).
Author information

Authors and Affiliations

Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA
Moez Dawood, James R. Lupski, Richard A. Gibbs, Fritz J. Sedlazeck, Sairam Behera, Harsha Doddapaneni, Jianhong Hu, Shalini N. Jhangiani, Medhat
Mahmoud, Donna Muzny, Piyush Panchal, Aniko Sabo, Evette Scott, Kimberly Walker, Bo Yuan & Xinchang Zheng

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Moez Dawood, James R. Lupski, Richard A. Gibbs, Fritz J. Sedlazeck, Jennifer E. Posey, Hatoon Al Ali, Elizabeth G. Atkinson, Shaghayegh T. Beheshti, Zeynep H.
Coban-Akdemir, Karen J. Coveler, Zain Dardas, Haowei Du, Ruizhi Duan, Jawid Fatih, Brandon Garcia, Nikhita Gogate, Christopher M. Grochowski, Minal
Jamsandekar, Angad Jolly, Parneet Kaur, Ahmed K. Saad, Richard A. Lewis, Yidan Li, Pengfei Liu, Chloe Munderloh, Donna Muzny, Shruti Pande, Edgar Andres
Rivera-Munoz, Vernon Reid Sutton, Lauren Westerfield & Bo Yuan

Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA
Moez Dawood

Department of Biostatistics, University of Washington, Seattle, WA, USA

Ben Heavner, Marsha M. Wheeler, Ali Shojaie, Susanne May, Emily Bonkowski, Sarah Conner, Matthew P. Conomos, Stephanie M. Gogarten, Sarah C.
Nelson, Sheryl Payne, Jaime Prosser, Guanghao Qi, Adrienne M. Stilp, Catherine C. Tong & Quenna Wong

Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA

Rachel A. Ungar, Laurens Wiel, Casey A. Gifford, Stephen B. Montgomery, Taylor M. Arriaga, Euan A. Ashley, Denver Bradley, Clarisa Chavez Martinez, Ivy
Evergreen, William Greenleaf, Tanner D. Jensen, Christopher Jin, Aimee Juan, Jessica Kain, Anshul Kundaje, Samuel Lancaster, Michael P. Snyder, Suchitra
Sudarshan & Frank Wong

Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA

Rachel A. Ungar, Laurens Wiel, Stephen B. Montgomery, Page Goddard, Lauren Meador, Alexander Miller, Thuy-mi P. Nguyen, Jonathan Nguyen, Jeren D.
Olsen, Evin M. Padhi, Paul Petrowski, Astaria D. Podesta, Wanqiong Qiao, Stuart A. Scott, Kevin S. Smith, Brigitte Stark, Ziming Weng & Yao Yang

Stanford Center for Biomedical Ethics, School of Medicine, Stanford University, Stanford, CA, USA
Rachel A. Ungar

Institute for Clinical and Translational Science, University of California, Irvine, Irvine, CA, USA
Jonathan LoTempio, Emmanuèle C. Délot, Eric Vilain, Light Auriga, Charles Hadley King & Georgia Pitsava

Division of Cardiovascular Medicine, School of Medicine, Stanford University, Stanford, CA, USA
Laurens Wiel, Matthew T. Wheeler, Euan A. Ashley, Themistocles Assimes, Jennefer Carter, Sara Emami, John Gorzynski, Rodrigo Guarischi-Sousa, David
Jimenez-Morales, Shruti Marwaha, Hector Rodrigo Mendez, Thomas Quertermous, Chloe M. Reuter, Raquel L. Summers, Philip Tsao, Isabella Voutos, Juliana M.
Walrod, Jiye Yu & Jimmy Zhen

Division of Genetics and Metabolism, Children’s National Hospital, Washington, DC, USA
Seth Berger & Andrea J. Cohen

Center for Precision Medicine and Genomics Research, Children’s National Hospital, Washington, DC, USA
Seth Berger, Leandros Boukas & Arthur Ko

Department of Genomics and Precision Medicine, George Washington University, Washington, DC, USA
Seth Berger

[Link] 25/35
11/17/25, 11:11 AM GREGoR: accelerating genomics for rare diseases | Nature

Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA, USA
Jonathan A. Bernstein, Gill Bejerano, Devon Bonner, Caitlin Harrington, Laura Keehan, Dena R. Matalon, Elizabeth Porter, Oriane Rubio & Christina G. Tise

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA
Jessica X. Chong, Michael J. Bamshad, Kailyn Anderson, Kati J. Buckingham, William W. Gordon, Jonas Gustafson, Colby T. Marvin, Olivia M.
Sommerland & Miranda P. Zalusky

Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA
Jessica X. Chong, Danny E. Miller, Michael J. Bamshad, Sabrina Best, Silvia Casadei, Lea M. Starita & Andrew B. Stergachis

Department of Genome Sciences, University of Washington, Seattle, WA, USA

Evan E. Eichler, Chia-Lin Wei, Danny E. Miller, Peter Anderson, Sabrina Best, Silvia Casadei, Yong-Han Hank Cheng, Colleen P. Davis, Sophia B. Gibson, William T.
Harvey, Gail P. Jarvik, F. Kumara Mastrorosa, Sean R. McGee, Karynne Patterson, Matthew Richardson, Joshua D. Smith, Lea M. Starita, Andrew B.
Stergachis, Elliott G. Swanson, Jeffrey Weiss, Qian Yi & Christina Zakarian

Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA

Evan E. Eichler

Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA

James R. Lupski, Richard A. Lewis & Sebastian Ochoa

Department of Statistics, University of Washington, Seattle, WA, USA

Ali Shojaie

Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA
Michael E. Talkowski, Heidi L. Rehm, Kaitlin E. Samocha, Anne O’Donnell-Luria, Christina Austin-Tse, Philip M. Boone, Harrison Brand, Celine de Esch, Michael
Duyzend, Arthur S. Lee, Monica Salani, Kaitlin Samocha, Alba Sanchis-Juan, Jui-Cheng Tai & Rachita Yadav

Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge,
MA, USA
Michael E. Talkowski, Heidi L. Rehm, Kaitlin E. Samocha, Anne O’Donnell-Luria, Siwaar Abouhala, K. D. Ahlquist, Mutaz Amin, Christina Austin-Tse, Samantha M.
Baxter, Benjamin Blankenmeister, Philip M. Boone, Harrison Brand, Colleen Carlston, Celine de Esch, Stephanie DiTroia, Michael Duyzend, Vijay Ganesh, Kiran
Garimella, Carmen Glaze, Emily Groopman, Sanna Gudmundsson, Stacey Hall, Yongqing Huang, Julia Klugherz, Katie Larsson, Arthur S. Lee, Gabrielle
Lemire, Jialan Ma, Daniel MacArthur, Brian Mangilog, Daniel Marten, Eva Martinez, Olfa Messaoud, Chloe Mighton, Mariana Moyses, Ashana Neale, Emily
O’Heir, Melanie C. O’Leary, Ikeoluwa Osei-Owusu, Lynn Pais, Alicia Pham, Lindsay Romo, Kathryn Russell, Monica Salani, Kaitlin Samocha, Alba Sanchis-
Juan, Jillian Serrano, Gulalai Shah, Moriel Singer-Berk, Mugdha Singh, Hana Snow, Kayla Socarras, Sarah L. Stenton, Jui-Cheng Tai, Grace VanNoy, Ben
Weisburd, Michael Wilson, Monica Wojcik, Isaac Wong & Rachita Yadav

Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
Michael E. Talkowski, Harrison Brand, Arthur S. Lee, Alba Sanchis-Juan, Jui-Cheng Tai & Rachita Yadav

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Michael E. Talkowski

Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA
Michael E. Talkowski

Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children’s Hospital, Columbus, OH, USA
Alex H. Wagner

Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA
Alex H. Wagner

Department of Biomedical Informatics, The Ohio State University College of Medicine, Columbus, OH, USA

[Link] 26/35
11/17/25, 11:11 AM GREGoR: accelerating genomics for rare diseases | Nature
Alex H. Wagner

Office of Genomic Data Science, National Human Genome Research Institute, Bethesda, MD, USA
Christopher Wellington

Pacific Northwest Research Institute, Seattle, WA, USA

Aimée Dudley & Claudia M. B. Carvalho

Department of Pediatrics, School of Medicine, Stanford University, Stanford, CA, USA

Casey A. Gifford & Matthew B. Neu

Basic Science and Engineering (BASE) Initiative, Betty Irene Moore Children’s Heart Center, Stanford Medicine Children’s Health,
Stanford, CA, USA
Casey A. Gifford

Institute for Stem Cell Biology and Regenerative Medicine, School of Medicine, Stanford University, Stanford, CA, USA
Casey A. Gifford

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA
Danny E. Miller

Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA
Danny E. Miller

Department of Computer Science, Rice University, Houston, TX, USA

Fritz J. Sedlazeck

Department of Pediatrics, Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA, USA
Anne O’Donnell-Luria, Philip M. Boone, Colleen Carlston, Michael Duyzend, Daniel Marten, Mugdha Singh, Sarah L. Stenton & Monica Wojcik

Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA
Jennifer E. Posey

Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA
Jennifer E. Posey

Division of Genome Sciences, National Human Genome Research Institute, Bethesda, MD, USA
Lisa H. Chadwick, Sara Currin & Gabrielle C. Villard

Department of Pediatrics, Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA, USA
Michael J. Bamshad

Department of Biomedical Data Science, Stanford University, Stanford, CA, USA

Stephen B. Montgomery, Emily Alsentzer & Euan A. Ashley

Illumina Artificial Intelligence Laboratory, Illumina, Foster City, CA, USA

Aashish Adhikari

Department of Ophthalmology, Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA
Kinga M. Bujakowska

Medical Genomics Research, Illumina, San Diego, CA, USA

Ali Crawford

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Molecular and Cellular Biology Program, University of Washington, Seattle, WA, USA
Aimée Dudley & Jonas Gustafson

Ambry Genetics, Aliso Viejo, CA, USA

Kelly D. Farwell Hagman, Zain Dardas, Sami Belhadj, Krista Bluske, John Harting, Yun-Hua Hsiao, Rachid Karam & Bojan Losic

Department of Medicine, University of Chicago, Chicago, IL, USA

Yang I. Li

Department of Genomics and Computational Biology, University of Massachusetts Chan Medical School, Worcester, MA, USA
Jill E. Moore

Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
Aaron R. Quinlan

Gene Regulation Observatory, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Bo Xia

Department of Neurosurgery, Baylor Research Institute, Baylor College of Medicine, Temple, TX, USA
S. Stephen Yi

Department of Medicine, School of Medicine—Temple, Baylor College of Medicine, Temple, TX, USA
S. Stephen Yi

Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The
University of Texas Health Science Center at Houston, Houston, TX, USA
Eric Boerwinkle, Tugce Bozkurt-Yozgatli, Zeynep H. Coban-Akdemir, Iman Egab, Archana Rai & Jiaoyang Xu

Department of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
Tugce Bozkurt-Yozgatli

Department of Pediatrics, Section of Pediatric Neurology and Developmental Neurosciences, Baylor College of Medicine, Houston,
TX, USA
Daniel G. Calame, Mira Gandhi, Jesse M. Levine & Davut Pehlivan

Department of Pediatrics, Division of Immunology, Allergy, and Retrovirology, Baylor College of Medicine, Houston, TX, USA
Ivan Chinn

Department of Neurology, The University of Texas Dell Medical School, Austin, TX, USA
Angad Jolly

Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA

Richard A. Lewis

Department of Medicine, Baylor College of Medicine, Houston, TX, USA

Richard A. Lewis

Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait

Dana Marafi

Section of Child Neurology, Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait
Dana Marafi

Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait

[Link] 28/35
11/17/25, 11:11 AM GREGoR: accelerating genomics for rare diseases | Nature
Dana Marafi

Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan

Tadahiro Mitani

Texas Children’s Hospital, Houston, TX, USA

Davut Pehlivan

Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, USA
Davut Pehlivan

Baylor Genetics, Houston, TX, USA

Bo Yuan

Department of Neurology, Brigham and Women’s Hospital, Boston, MA, USA

Vijay Ganesh

Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia
Daniel MacArthur

Centre for Population Genomics, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia
Daniel MacArthur

Department of Pediatrics, Division of Newborn Medicine, Boston Children’s Hospital, Boston, MA, USA
Monica Wojcik

Department of Computer Science, Stanford University, Stanford, CA, USA

Gill Bejerano, Ziwei Chen, Anshul Kundaje, Soumya Kundu & Riya Sinha

Department of Developmental Biology, School of Medicine, Stanford University, Stanford, CA, USA
Gill Bejerano

Institute of Computational and Mathematical Engineering, Stanford University, Stanford, CA, USA
Salil Deshpande

Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, CA, USA
Sohaib Hassan

Department of Pediatrics, University of California Irvine, Irvine, CA, USA

Miguel Almalvez & Ivan De Dios

Metabolic Disorders, Children’s Hospital Orange County (CHOC), Orange, CA, USA
Rebekah Barrick

Department of Biological Chemistry, School of Medicine, University of California Irvine, Irvine, CA, USA
Ya Cui & Wei Li

Department of Pathology & Laboratory Medicine, Children’s National Hospital, Washington, DC, USA
Meghan Delaney

Department of Neurology, School of Medicine, University of California Irvine, Irvine, CA, USA
Changrui Xiao

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, USA

[Link] 29/35
11/17/25, 11:11 AM GREGoR: accelerating genomics for rare diseases | Nature
Elizabeth E. Blue, Martha Horike-Pyne, Gail P. Jarvik, Annelise Y. Mah-Som, Adriana E. Sedeño Cortés & Andrew B. Stergachis

Cell & Molecular Biology, Center for Pediatric Neurological Disease Research, St Jude Children’s Research Hospital, Seattle, WA, USA
Heather C. Mefford

Consortia
GREGoR Partner Members
Aashish Adhikari, Kinga M. Bujakowska, Claudia M. B. Carvalho, Ali Crawford, Aimée
Dudley, Kelly D. Farwell Hagman, Yang I. Li, Jill E. Moore, Aaron R. Quinlan, Alex H.
Wagner, Bo Xia & S. Stephen Yi

Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium

Moez Dawood, Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan
LoTempio, Laurens Wiel, Claudia M. B. Carvalho, Richard A. Gibbs, Casey A.
Gifford, Susanne May, Danny E. Miller, Heidi L. Rehm, Kaitlin E. Samocha, Fritz J.
Sedlazeck, Eric Vilain, Anne O’Donnell-Luria, Jennifer E. Posey, Lisa H. Chadwick, Michael
J. Bamshad, Stephen B. Montgomery
U01HG011758

Jennifer E. Posey, Richard A. Gibbs, James R. Lupski, Hatoon Al Ali, Elizabeth G.

Atkinson, Sairam Behera, Shaghayegh T. Beheshti, Eric Boerwinkle, Tugce Bozkurt-
Yozgatli, Daniel G. Calame, Ivan Chinn, Zeynep H. Coban-Akdemir, Karen J. Coveler, Zain
Dardas, Moez Dawood, Harsha Doddapaneni, Haowei Du, Ruizhi Duan, Iman Egab, Jawid
Fatih, Mira Gandhi, Brandon Garcia, Nikhita Gogate, Christopher M.
Grochowski, Jianhong Hu, Minal Jamsandekar, Shalini N. Jhangiani, Angad Jolly, Parneet
Kaur, Ahmed K. Saad, Jesse M. Levine, Richard A. Lewis, Yidan Li, Pengfei Liu, Medhat
Mahmoud, Dana Marafi, Tadahiro Mitani, Chloe Munderloh, Donna Muzny, Sebastian
Ochoa, Piyush Panchal, Shruti Pande, Davut Pehlivan, Archana Rai, Edgar Andres Rivera-
Munoz, Aniko Sabo, Evette Scott, Fritz J. Sedlazeck, Vernon Reid Sutton, Kimberly
Walker, Lauren Westerfield, Jiaoyang Xu, Bo Yuan & Xinchang Zheng

U01HG011755

Anne O’Donnell-Luria, Heidi L. Rehm, Michael E. Talkowski, Siwaar Abouhala, K. D.

Ahlquist, Mutaz Amin, Christina Austin-Tse, Samantha M. Baxter, Benjamin
Blankenmeister, Philip M. Boone, Harrison Brand, Colleen Carlston, Celine de
[Link] 30/35
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Esch, Stephanie DiTroia, Michael Duyzend, Vijay Ganesh, Kiran Garimella, Carmen
Glaze, Emily Groopman, Sanna Gudmundsson, Stacey Hall, Yongqing Huang, Julia
Klugherz, Katie Larsson, Arthur S. Lee, Gabrielle Lemire, Jialan Ma, Daniel
MacArthur, Brian Mangilog, Daniel Marten, Eva Martinez, Olfa Messaoud, Chloe
Mighton, Mariana Moyses, Ashana Neale, Emily O’Heir, Melanie C. O’Leary, Ikeoluwa
Osei-Owusu, Lynn Pais, Alicia Pham, Lindsay Romo, Kathryn Russell, Monica
Salani, Kaitlin Samocha, Alba Sanchis-Juan, Jillian Serrano, Gulalai Shah, Moriel Singer-
Berk, Mugdha Singh, Hana Snow, Kayla Socarras, Sarah L. Stenton, Jui-Cheng Tai, Grace
VanNoy, Ben Weisburd, Michael Wilson, Monica Wojcik, Isaac Wong & Rachita Yadav
U01HG011762

Stephen B. Montgomery, Jonathan A. Bernstein, Matthew T. Wheeler, Emily

Alsentzer, Taylor M. Arriaga, Euan A. Ashley, Themistocles Assimes, Gill Bejerano, Devon
Bonner, Denver Bradley, Jennefer Carter, Clarisa Chavez Martinez, Ziwei Chen, Salil
Deshpande, Sara Emami, Ivy Evergreen, Casey A. Gifford, Page Goddard, John
Gorzynski, William Greenleaf, Rodrigo Guarischi-Sousa, Caitlin Harrington, Sohaib
Hassan, Tanner D. Jensen, David Jimenez-Morales, Christopher Jin, Aimee Juan, Jessica
Kain, Laura Keehan, Anshul Kundaje, Soumya Kundu, Samuel Lancaster, Shruti
Marwaha, Dena R. Matalon, Lauren Meador, Hector Rodrigo Mendez, Alexander
Miller, Matthew B. Neu, Thuy-mi P. Nguyen, Jonathan Nguyen, Jeren D. Olsen, Evin M.
Padhi, Paul Petrowski, Astaria D. Podesta, Elizabeth Porter, Wanqiong Qiao, Thomas
Quertermous, Chloe M. Reuter, Oriane Rubio, Stuart A. Scott, Riya Sinha, Kevin S.
Smith, Michael P. Snyder, Brigitte Stark, Suchitra Sudarshan, Raquel L.
Summers, Christina G. Tise, Philip Tsao, Rachel A. Ungar, Isabella Voutos, Juliana M.
Walrod, Ziming Weng, Laurens Wiel, Frank Wong, Yao Yang, Jiye Yu & Jimmy Zhen

U01HG011745

Eric Vilain, Seth Berger, Emmanuèle C. Délot, Miguel Almalvez, Light Auriga, Rebekah
Barrick, Sami Belhadj, Krista Bluske, Leandros Boukas, Andrea J. Cohen, Ya Cui, Ivan De
Dios, Meghan Delaney, John Harting, Yun-Hua Hsiao, Rachid Karam, Charles Hadley
King, Arthur Ko, Wei Li, Bojan Losic, Jonathan LoTempio, Georgia Pitsava & Changrui
Xiao

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U01HG011744

Michael J. Bamshad, Chia-Lin Wei, Evan E. Eichler, Jessica X. Chong, Kailyn

Anderson, Peter Anderson, Sabrina Best, Elizabeth E. Blue, Kati J. Buckingham, Silvia
Casadei, Yong-Han Hank Cheng, Colleen P. Davis, Sophia B. Gibson, William W.
Gordon, Jonas Gustafson, William T. Harvey, Martha Horike-Pyne, Gail P. Jarvik, Annelise
Y. Mah-Som, Colby T. Marvin, F. Kumara Mastrorosa, Sean R. McGee, Heather C.
Mefford, Danny E. Miller, Karynne Patterson, Matthew Richardson, Adriana E. Sedeño
Cortés, Joshua D. Smith, Olivia M. Sommerland, Lea M. Starita, Andrew B.
Stergachis, Elliott G. Swanson, Jeffrey Weiss, Qian Yi, Christina Zakarian & Miranda P.
Zalusky

U24HG011746

Susanne May, Ali Shojaie, Emily Bonkowski, Sarah Conner, Matthew P.

Conomos, Stephanie M. Gogarten, Ben Heavner, Sarah C. Nelson, Sheryl Payne, Jaime
Prosser, Guanghao Qi, Adrienne M. Stilp, Catherine C. Tong, Marsha M.
Wheeler & Quenna Wong

NHGRI Program Management

Lisa H. Chadwick, Christopher Wellington, Sara Currin & Gabrielle C. Villard

Contributions
Conceptualization and methodology: M.D., B.H., M.M.W., R.A.U., J.L., L.W., S.B., J.A.B.,
J.X.C., E.C.D., E.E.E., J.R.L., A.S., M.E.T., A.H.W., C.-L.W., C.W., M.T.W., C.M.B.C., R.A.G.,
C.A.G., S.M., D.E.M., H.L.R., K.E.S., F.J.S., E.V., A.O.-L., J.E.P., L.H.C., M.J.B. and S.B.M.
Investigation: S.B., J.A.B., J.X.C., E.C.D., E.E.E., J.R.L., A.S., M.E.T., A.H.W., C.-L.W., C.W.,
M.T.W., C.M.B.C., R.A.G., C.A.G., S.M., D.E.M., H.L.R., K.E.S., F.J.S., E.V., A.O.-L., J.E.P.,
L.H.C., M.J.B. and S.B.M. Data curation: M.D., B.H., M.M.W. and S.B.M. Project
administration: S.B.M. Writing, reviewing and editing: M.D., B.H., M.M.W., R.A.U., J.L.,
L.W., C.M.B.C., R.A.G., C.A.G., S.M., D.E.M., H.L.R., K.E.S., F.J.S., E.V., A.O.-L., J.E.P., L.H.C.,
M.J.B. and S.B.M.

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Corresponding authors
Correspondence to Moez Dawood or Stephen B. Montgomery.
Ethics declarations

Competing interests
R.A.G. declares that Baylor Genetics is a Baylor College of Medicine affiliate that derives
revenue from genetic testing. BCM and Miraca Holdings have formed a joint venture
with shared ownership and governance of Baylor Genetics, which performs clinical
microarray analysis and other genomic studies (exome and genome sequencing) for
patient and family care. F.J.S. has received research support from Illumina, Pacific
Biosciences and Genentech. J.E.P. is an advisor to MaddieBio. S.B.M. is an advisor to
MyOme, PhiTech and Valinor Therapeutics. F.J.S. and D.E.M. have received research
support and/or consumables from ONT and have received travel funding to speak on
behalf of ONT. D.E.M. has received travel support from Pacific Biosciences. D.E.M. is on
an advisory board at ONT, a scientific advisory board at Basis Genetics and holds stock
options in both MyOme and Basis Genetics. M.J.B. is the chair of the scientific advisory
board of GeneDx and receives funding from the American Society of Human Genetics as
the editor-in-chief of HGG Advances. J.X.C. receives funding from the American Society
of Human Genetics as the Deputy Editor of HGG Advances. D.P. consults for Ionis
Pharmaceuticals. H.L.R. and K.E.S. have received rare-disease research funding from
Microsoft. H.L.R. has received research funding from Illumina and compensation as a
past member of the scientific advisory board of Genome Medical. A.O.-L. was a paid
consultant to Tome Biosciences, Ono Pharma USA, Addition Therapeutics, Congenica
and receives research funding from Pacific Biosciences. E.E.E. is a scientific advisory
board member of Variant Bio. M.P.S. is a cofounder and scientific advisor of Xthera,
Exposomics, Filtricine, Fodsel, iollo, InVu Health, January AI, Marble Therapeutics,
Mirvie, Next Thought AI, Orange Street Ventures, Personalis, Protos Biologics, Qbio,
RTHM and SensOmics. M.P.S. is a scientific advisor of Abbratech, Applied Cognition,
Enovone, Jupiter Therapeutics, M3 Helium, Mitrix, Neuvivo, Onza, Sigil Biosciences,

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Captify Inc, WndrHLTH, Yuvan Research and Ovul. A.A. and A.C. are employees and
shareholders of Illumina, Inc.
Peer review

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Nature thanks Fowzan Alkuraya, Claudia Gonzaga-Jauregui and the other, anonymous,
reviewer(s) for their contribution to the peer review of this work.

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Supplementary information

Supplementary Discussion
Supplementary functional genomics discussion.

Supplementary Table 1
Tracking GREGoR papers with molecular diagnoses. GREGoR has led or contributed to
83 papers studying molecular diagnoses in 365 genes with more than a third being novel
disease gene discoveries or phenotypic expansions. This table catalogues these genes
and their publications.

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Dawood, M., Heavner, B., Wheeler, M.M. et al. GREGoR: accelerating genomics for rare diseases.
Nature 647, 331–342 (2025). [Link]

Received Accepted Published

15 December 2024 10 September 2025 12 November 2025

Version of record Issue date

12 November 2025 13 November 2025

DOI
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Subjects

Genome informatics • Medical genetics • Medical genomics • Personalized medicine

Nature (Nature) ISSN 1476-4687 (online) ISSN 0028-0836 (print)

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