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<p>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 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.</p>

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GREGoR: accelerating genomics for rare diseases

  • 期刊论文

  • 发表日期：

    2025年11月12日

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  • 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,
  • Aashish Adhikari,
  • Kinga M. Bujakowska,
  • Ali Crawford,
  • Aimée Dudley,
  • Kelly D. Farwell Hagman,
  • Yang I. Li,
  • Jill E. Moore,
  • Aaron R. Quinlan,
  • Bo Xia,
  • S. Stephen Yi,
  • 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,
  • 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,
  • 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,
  • Vernon Reid Sutton,
  • Kimberly Walker,
  • Lauren Westerfield,
  • Jiaoyang Xu,
  • Bo Yuan,
  • Xinchang Zheng,
  • 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,
  • 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,
  • 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,
  • Isabella Voutos,
  • Juliana M. Walrod,
  • Ziming Weng,
  • Frank Wong,
  • Yao Yang,
  • Jiye Yu,
  • Jimmy Zhen,
  • 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,
  • Georgia Pitsava,
  • Changrui Xiao,
  • 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,
  • 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,
  • 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,
  • Sara Currin,
  • Gabrielle C. Villard

摘要

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 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.