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Authors
Dawood, Moez https://orcid.org/0000-0003-0192-1277
Heavner, Ben https://orcid.org/0000-0003-2898-9044
Wheeler, Marsha M.
Ungar, Rachel A. https://orcid.org/0000-0002-2214-959X
LoTempio, Jonathan
Wiel, Laurens https://orcid.org/0000-0003-3410-760X
Berger, Seth https://orcid.org/0000-0001-7517-4302
Bernstein, Jonathan A. https://orcid.org/0000-0001-5369-346X
Chong, Jessica X. https://orcid.org/0000-0002-1616-2448
Délot, Emmanuèle C.
Eichler, Evan E. https://orcid.org/0000-0002-8246-4014
Lupski, James R. https://orcid.org/0000-0001-9907-9246
Shojaie, Ali
Talkowski, Michael E. https://orcid.org/0000-0003-2889-0992
Wagner, Alex H. https://orcid.org/0000-0002-2502-8961
Wei, Chia-Lin https://orcid.org/0000-0001-6820-0461
Wellington, Christopher https://orcid.org/0009-0002-4095-1567
Wheeler, Matthew T. https://orcid.org/0000-0001-8721-3022
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Adhikari, Aashish
Bujakowska, Kinga M.
Crawford, Ali
Dudley, Aimée
Farwell Hagman, Kelly D.
Li, Yang I.
Moore, Jill E.
Quinlan, Aaron R.
Xia, Bo
Yi, S. Stephen
Carvalho, Claudia M. B.
Gibbs, Richard A.
Gifford, Casey A. https://orcid.org/0000-0002-7757-573X
May, Susanne
Miller, Danny E. https://orcid.org/0000-0001-6096-8601
Rehm, Heidi L.
Samocha, Kaitlin E. https://orcid.org/0000-0002-1704-3352
Sedlazeck, Fritz J. https://orcid.org/0000-0001-6040-2691
Vilain, Eric
O’Donnell-Luria, Anne https://orcid.org/0000-0001-6418-9592
Posey, Jennifer E.
Chadwick, Lisa H.
Bamshad, Michael J.
Montgomery, Stephen B. https://orcid.org/0000-0002-5200-3903
,
,
Ali, Hatoon Al
Atkinson, Elizabeth G.
Behera, Sairam
Beheshti, Shaghayegh T.
Boerwinkle, Eric
Bozkurt-Yozgatli, Tugce
Calame, Daniel G.
Chinn, Ivan
Coban-Akdemir, Zeynep H.
Coveler, Karen J.
Dardas, Zain
Doddapaneni, Harsha
Du, Haowei
Duan, Ruizhi
Egab, Iman
Fatih, Jawid
Gandhi, Mira
Garcia, Brandon
Gogate, Nikhita
Grochowski, Christopher M.
Hu, Jianhong
Jamsandekar, Minal
Jhangiani, Shalini N.
Jolly, Angad
Kaur, Parneet
Saad, Ahmed K.
Levine, Jesse M.
Lewis, Richard A.
Li, Yidan
Liu, Pengfei
Mahmoud, Medhat
Marafi, Dana
Mitani, Tadahiro
Munderloh, Chloe
Muzny, Donna
Ochoa, Sebastian
Panchal, Piyush
Pande, Shruti
Pehlivan, Davut
Rai, Archana
Rivera-Munoz, Edgar Andres
Sabo, Aniko
Scott, Evette
Sutton, Vernon Reid
Walker, Kimberly
Westerfield, Lauren
Xu, Jiaoyang
Yuan, Bo
Zheng, Xinchang
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Abouhala, Siwaar
Ahlquist, K. D.
Amin, Mutaz
Austin-Tse, Christina
Baxter, Samantha M.
Blankenmeister, Benjamin
Boone, Philip M.
Brand, Harrison
Carlston, Colleen
de Esch, Celine
DiTroia, Stephanie
Duyzend, Michael
Ganesh, Vijay
Garimella, Kiran
Glaze, Carmen
Groopman, Emily
Gudmundsson, Sanna
Hall, Stacey
Huang, Yongqing
Klugherz, Julia
Larsson, Katie
Lee, Arthur S.
Lemire, Gabrielle
Ma, Jialan
MacArthur, Daniel
Mangilog, Brian
Marten, Daniel
Martinez, Eva
Messaoud, Olfa
Mighton, Chloe
Moyses, Mariana
Neale, Ashana
O’Heir, Emily
O’Leary, Melanie C.
Osei-Owusu, Ikeoluwa
Pais, Lynn
Pham, Alicia
Romo, Lindsay
Russell, Kathryn
Salani, Monica
Samocha, Kaitlin
Sanchis-Juan, Alba
Serrano, Jillian
Shah, Gulalai
Singer-Berk, Moriel
Singh, Mugdha
Snow, Hana
Socarras, Kayla
Stenton, Sarah L.
Tai, Jui-Cheng
VanNoy, Grace
Weisburd, Ben
Wilson, Michael
Wojcik, Monica
Wong, Isaac
Yadav, Rachita
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Alsentzer, Emily
Arriaga, Taylor M.
Ashley, Euan A.
Assimes, Themistocles
Bejerano, Gill
Bonner, Devon
Bradley, Denver
Carter, Jennefer
Martinez, Clarisa Chavez
Chen, Ziwei
Deshpande, Salil
Emami, Sara
Evergreen, Ivy
Goddard, Page
Gorzynski, John
Greenleaf, William
Guarischi-Sousa, Rodrigo
Harrington, Caitlin
Hassan, Sohaib
Jensen, Tanner D.
Jimenez-Morales, David
Jin, Christopher
Juan, Aimee
Kain, Jessica
Keehan, Laura
Kundaje, Anshul
Kundu, Soumya
Lancaster, Samuel
Marwaha, Shruti
Matalon, Dena R.
Meador, Lauren
Mendez, Hector Rodrigo
Miller, Alexander
Neu, Matthew B.
Nguyen, Thuy-mi P.
Nguyen, Jonathan
Olsen, Jeren D.
Padhi, Evin M.
Petrowski, Paul
Podesta, Astaria D.
Porter, Elizabeth
Qiao, Wanqiong
Quertermous, Thomas
Reuter, Chloe M.
Rubio, Oriane
Scott, Stuart A.
Sinha, Riya
Smith, Kevin S.
Snyder, Michael P.
Stark, Brigitte
Sudarshan, Suchitra
Summers, Raquel L.
Tise, Christina G.
Tsao, Philip
Voutos, Isabella
Walrod, Juliana M.
Weng, Ziming
Wong, Frank
Yang, Yao
Yu, Jiye
Zhen, Jimmy
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Almalvez, Miguel
Auriga, Light
Barrick, Rebekah
Belhadj, Sami
Bluske, Krista
Boukas, Leandros
Cohen, Andrea J.
Cui, Ya
De Dios, Ivan
Delaney, Meghan
Harting, John
Hsiao, Yun-Hua
Karam, Rachid
King, Charles Hadley
Ko, Arthur
Li, Wei
Losic, Bojan
Pitsava, Georgia
Xiao, Changrui
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Anderson, Kailyn
Anderson, Peter
Best, Sabrina
Blue, Elizabeth E.
Buckingham, Kati J.
Casadei, Silvia
Cheng, Yong-Han Hank
Davis, Colleen P.
Gibson, Sophia B.
Gordon, William W.
Gustafson, Jonas
Harvey, William T.
Horike-Pyne, Martha
Jarvik, Gail P.
Mah-Som, Annelise Y.
Marvin, Colby T.
Mastrorosa, F. Kumara
McGee, Sean R.
Mefford, Heather C.
Patterson, Karynne
Richardson, Matthew
Sedeño Cortés, Adriana E.
Smith, Joshua D.
Sommerland, Olivia M.
Starita, Lea M.
Stergachis, Andrew B.
Swanson, Elliott G.
Weiss, Jeffrey
Yi, Qian
Zakarian, Christina
Zalusky, Miranda P.
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Bonkowski, Emily
Conner, Sarah
Conomos, Matthew P.
Gogarten, Stephanie M.
Nelson, Sarah C.
Payne, Sheryl
Prosser, Jaime
Qi, Guanghao
Stilp, Adrienne M.
Tong, Catherine C.
Wong, Quenna
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Currin, Sara
Villard, Gabrielle C.
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Article History
Received: 15 December 2024
Accepted: 10 September 2025
First Online: 12 November 2025
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, Captify Inc, WndrHLTH, Yuvan Research and Ovul. A.A. and A.C. are employees and shareholders of Illumina, Inc.
