An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
This study provides an evidence-based framework for variant prioritization in ES and GS data using Exomiser and Genomiser. These recommendations have been implemented in the Mosaic platform to support the ongoing analysis of undiagnosed UDN participants and provide efficient, scalable reanalysis to improve diagnostic yield. Our work also highlights the importance of tracking solved cases and diagnostic variants that can be used to benchmark bioinformatics tools. Exomiser and Genomiser are available at https://github.com/exomiser/Exomiser/ .
Authors
- Nitsuh Dargie
- Gábor Marth (ORCID: https://orcid.org/0000-0003-0222-1694)
- Anna Raper
- Ellen F. Macnamara (ORCID: https://orcid.org/0000-0002-9418-3287)
- Pınar Bayrak‐Toydemir (ORCID: https://orcid.org/0000-0001-9381-2478)
- Marla Sabaii
- Jennifer Morgan (ORCID: https://orcid.org/0000-0002-9421-432X)
- Donald Basel (ORCID: https://orcid.org/0000-0002-1801-8554)
- Gonench Kilich (ORCID: https://orcid.org/0009-0006-5043-6066)
- Andres Vargas
- Joie Davis
- Brandon Wilk (ORCID: https://orcid.org/0000-0002-4110-2324)
- Oguz Kanca (ORCID: https://orcid.org/0000-0001-5438-0879)
- Paul G. Fisher (ORCID: https://orcid.org/0000-0002-1196-1590)
- Maria T. Acosta (ORCID: https://orcid.org/0000-0001-8914-7401)
- Louise Bier (ORCID: https://orcid.org/0000-0001-9692-5611)
- Ingrid A. Holm (ORCID: https://orcid.org/0000-0003-4712-8821)
- Sanaz Attaripour (ORCID: https://orcid.org/0000-0002-4021-0307)
- Rachel A. Ungar (ORCID: https://orcid.org/0000-0002-2214-959X)
- Elisabeth A. Rosenthal (ORCID: https://orcid.org/0000-0001-6042-4487)
- Kumarie Latchman (ORCID: https://orcid.org/0000-0002-0828-4795)
- Lorenzo Botto (ORCID: https://orcid.org/0000-0002-7727-5155)
- Pongtawat Lertwilaiwittaya (ORCID: https://orcid.org/0000-0002-8808-3829)
- Kayla M. Treat
- Michael Bamshad
- Kathleen A. Leppig (ORCID: https://orcid.org/0000-0002-8678-6221)
- William E. Byrd (ORCID: https://orcid.org/0000-0003-4730-5293)
- Erica E. Davis (ORCID: https://orcid.org/0000-0002-2412-8397)
- Elizabeth A. Worthey (ORCID: https://orcid.org/0000-0003-4083-7764)
- Holly K. Tabor (ORCID: https://orcid.org/0000-0003-1005-5008)
- Lindsay A. Mulvihill
- Dave Viskochil
- Elizabeth Blue (ORCID: https://orcid.org/0000-0002-0633-0305)
- John E. Gorzynski (ORCID: https://orcid.org/0000-0002-9034-9016)
- Rong Mao (ORCID: https://orcid.org/0000-0002-1236-0252)
- Rebekah Barrick
- Matthew Coggins
- Rebecca D. Ganetzky (ORCID: https://orcid.org/0000-0001-6238-8109)
- Sandesh C.S. Nagamani (ORCID: https://orcid.org/0000-0001-6818-7367)
- F. Sessions Cole (ORCID: https://orcid.org/0000-0002-3797-9369)
- Matthew Robinson (ORCID: https://orcid.org/0000-0003-0709-1219)
- Julie McCarrier
- Joy D. Cogan (ORCID: https://orcid.org/0000-0001-8106-1216)
- Lili Mantcheva
- Kimberly Ezell (ORCID: https://orcid.org/0009-0005-7200-7644)
- Terra R. Coakley
- E. Woloschak Gayle
- Patricia Dickson (ORCID: https://orcid.org/0000-0003-3467-8488)
- Meghan C. Halley (ORCID: https://orcid.org/0000-0002-5031-9840)
- Gerard T. Berry (ORCID: https://orcid.org/0000-0001-5299-3313)
- Carlos A. Bacino (ORCID: https://orcid.org/0000-0002-4342-5012)
- Susan Korrick
- John C. Carey (ORCID: https://orcid.org/0000-0002-6007-8518)
- Adeline Vanderver (ORCID: https://orcid.org/0000-0002-6290-6751)
- Carol Oladele (ORCID: https://orcid.org/0000-0002-1154-8974)
- Sara Emami (ORCID: https://orcid.org/0000-0002-9624-2711)
- Jennefer N. Carter (ORCID: https://orcid.org/0000-0003-0830-3535)
- Iván K. Chinn (ORCID: https://orcid.org/0000-0001-5684-5457)
- Rebecca S. Overbury (ORCID: https://orcid.org/0000-0003-3008-9432)
- Lisa A. Schimmenti (ORCID: https://orcid.org/0000-0003-3154-4249)
- Cecilia Esteves
- Jessica Douglas
- Güney Bademci (ORCID: https://orcid.org/0000-0002-4052-8833)
- Changrui Xiao (ORCID: https://orcid.org/0000-0001-9536-3389)
- Kai Lee Yap (ORCID: https://orcid.org/0000-0003-4496-5464)
- Charlotte Cunningham‐Rundles (ORCID: https://orcid.org/0000-0003-0725-0320)
- Bruce R. Korf (ORCID: https://orcid.org/0000-0001-8272-339X)
- Raquel L. Alvarez
- Carlos Pardo‐Villamizar
- LéShon Peart
- Maija Steenari
- Kimberly LeBlanc (ORCID: https://orcid.org/0000-0001-5003-686X)
- Alistair Ward
- Martha Horike‐Pyne
- Tammi Skelton
- Ziyuan Guo
- Beatriz Anguiano (ORCID: https://orcid.org/0000-0001-9022-7716)
- Beth A. Martin (ORCID: https://orcid.org/0000-0002-3278-7560)
- Brett H. Graham (ORCID: https://orcid.org/0000-0001-8451-8154)
- Elizabeth A. Burke (ORCID: https://orcid.org/0000-0002-0801-666X)
- Nada Derar
- Ashok Balasubramanyam (ORCID: https://orcid.org/0000-0003-2093-5201)
- Julie Hoover‐Fong (ORCID: https://orcid.org/0000-0002-1242-5626)
- Anne Slavotinek (ORCID: https://orcid.org/0000-0001-7053-2449)
- James Verbsky (ORCID: https://orcid.org/0000-0001-6682-1002)
- Ben Solomon
- Paul G. Auwaerter (ORCID: https://orcid.org/0000-0002-8273-9057)
- Valerie V. Maduro (ORCID: https://orcid.org/0000-0001-8250-9844)
- John J. Mulvihill (ORCID: https://orcid.org/0000-0003-0437-0351)
- Cara Skraban (ORCID: https://orcid.org/0000-0001-5030-4692)
- Jacinda B. Sampson (ORCID: https://orcid.org/0000-0002-4991-6496)
- Daniel Wegner (ORCID: https://orcid.org/0000-0002-1625-2830)
- Stephen B. Montgomery (ORCID: https://orcid.org/0000-0002-5200-3903)
- Julián A. Martínez-Agosto (ORCID: https://orcid.org/0000-0001-6776-6949)
- Mohamad Saifeddine
- Vasilis S. Vasiliou (ORCID: https://orcid.org/0000-0003-3501-4093)
- Kim C. Worley (ORCID: https://orcid.org/0000-0002-0282-1000)
- Chloe M. Reuter (ORCID: https://orcid.org/0000-0002-0429-9922)
- Hugo J. Bellen (ORCID: https://orcid.org/0000-0001-5992-5989)
- Mariya Shadrina (ORCID: https://orcid.org/0000-0001-5962-0771)
- Deborah Barbouth
- Shamika Ketkar (ORCID: https://orcid.org/0000-0001-8799-0729)
- Teneasha Washington (ORCID: https://orcid.org/0000-0002-0813-3866)
- Barbara N. Pusey Swerdzewski
- P. Dane Witmer (ORCID: https://orcid.org/0000-0002-7527-2882)
- Wendy J. Introne (ORCID: https://orcid.org/0000-0003-2422-9750)
- Rosario I. Corona (ORCID: https://orcid.org/0000-0003-0470-4446)
- Taylor Maurer (ORCID: https://orcid.org/0009-0002-2330-7980)
- Peter H. Byers (ORCID: https://orcid.org/0000-0001-7786-7030)
- Mariko Nakano‐Okuno (ORCID: https://orcid.org/0000-0002-2465-3212)
- I. S. Glass
- Runjun D. Kumar (ORCID: https://orcid.org/0000-0001-7369-5956)
- Suzanne Sandmeyer (ORCID: https://orcid.org/0000-0002-5059-9619)
- Kaitlin Callaway
- Vishnu Anand Cuddapah (ORCID: https://orcid.org/0000-0002-4606-673X)
- Melissa Walker (ORCID: https://orcid.org/0000-0002-7423-9538)
- Shruti Marwaha (ORCID: https://orcid.org/0000-0002-1877-2629)
- Willa Thorson (ORCID: https://orcid.org/0000-0003-0230-5046)
- Steven E. Boyden (ORCID: https://orcid.org/0000-0002-9334-1466)
- Bianca Russell (ORCID: https://orcid.org/0000-0003-3934-9800)
- Tiphanie P. Vogel (ORCID: https://orcid.org/0000-0002-0857-133X)
- Neil H. Parker
- Abdul Elkadri (ORCID: https://orcid.org/0000-0002-8229-4270)
- Martín A. Rodríguez (ORCID: https://orcid.org/0000-0001-6949-9012)
- Lorraine Potocki
- Eric J. Allenspach (ORCID: https://orcid.org/0000-0001-7346-5835)
- Matilde Romero (ORCID: https://orcid.org/0000-0001-5516-7594)
- Mary Koziura
- Laura Keehan (ORCID: https://orcid.org/0009-0005-3084-679X)
- Edwin K. Silverman (ORCID: https://orcid.org/0000-0002-3641-3822)
- Francesco Vetrini (ORCID: https://orcid.org/0000-0003-0001-0199)
- Suha Bachir
- Mohamad A. Mikati (ORCID: https://orcid.org/0000-0003-0363-8715)
- Stephanie Bivona (ORCID: https://orcid.org/0009-0001-9824-0306)
- James P. Orengo (ORCID: https://orcid.org/0000-0002-3912-4575)
- Elijah Kravets (ORCID: https://orcid.org/0000-0002-6798-8944)
- Kathleen Sullivan (ORCID: https://orcid.org/0000-0001-5984-648X)
- Pagé C. Goddard (ORCID: https://orcid.org/0000-0001-8187-5316)
- Eric J. N. Vilain (ORCID: https://orcid.org/0000-0002-5557-3709)
- Fuki M. Hisama (ORCID: https://orcid.org/0000-0001-7772-7855)
- Lakshitha Perera
- Saskia Shuman (ORCID: https://orcid.org/0000-0001-9909-9335)
- Reaford Blackburn (ORCID: https://orcid.org/0009-0002-0753-7225)
- Marie Morimoto (ORCID: https://orcid.org/0000-0003-3353-639X)
- Brett J. Bordini
- Emily Glanton (ORCID: https://orcid.org/0000-0002-1088-9208)
- Dana Kiley
- Cynthia J. Tifft (ORCID: https://orcid.org/0000-0002-3931-1207)
- Mark Gerstein (ORCID: https://orcid.org/0000-0002-9746-3719)
- Elizabeth L. Fieg (ORCID: https://orcid.org/0000-0001-9422-2373)
- Michele Spencer‐Manzon
- Carlos Prada (ORCID: https://orcid.org/0000-0001-6410-136X)
- Brendan Lee (ORCID: https://orcid.org/0000-0001-8573-4211)
- Alyson Krokosky
- Filippo Pinto e Vairo (ORCID: https://orcid.org/0000-0001-6030-1903)
- Kelly Schoch
- Eric W. Klee (ORCID: https://orcid.org/0000-0003-2946-5795)
- Lauren S. Blieden (ORCID: https://orcid.org/0000-0002-8162-4346)
- Zackary Berger (ORCID: https://orcid.org/0000-0002-5871-0342)
- Kathleen Page (ORCID: https://orcid.org/0000-0002-7673-6685)
- Megan Bell (ORCID: https://orcid.org/0000-0002-2980-8498)
- Devon Bonner (ORCID: https://orcid.org/0000-0002-8771-0886)
- Rakale C. Quarells (ORCID: https://orcid.org/0000-0002-6499-2569)
- Elizabeth Chao (ORCID: https://orcid.org/0000-0002-4082-371X)
- Pengfei Liu (ORCID: https://orcid.org/0000-0001-8709-0771)
- Manish J. Butte (ORCID: https://orcid.org/0000-0002-4490-5595)
- Stephen C. Pak (ORCID: https://orcid.org/0000-0002-8089-3237)
- Erin Conboy (ORCID: https://orcid.org/0000-0002-4831-6683)
- Sophie Nicole (ORCID: https://orcid.org/0000-0003-0687-8853)
- Richard Chang (ORCID: https://orcid.org/0000-0003-3235-1959)
- Kelly Hassey
- Jennifer Wambach (ORCID: https://orcid.org/0000-0002-9299-0499)
- Calum A. MacRae (ORCID: https://orcid.org/0000-0001-5181-2664)
- Matthew Thomas Wheeler (ORCID: https://orcid.org/0000-0001-8721-3022)
- Michael T. Zimmermann (ORCID: https://orcid.org/0000-0001-7073-0525)
- Yigit Karasozen
- Shrikant Mane (ORCID: https://orcid.org/0000-0002-3267-5139)
- Vaidehi Jobanputra (ORCID: https://orcid.org/0000-0003-0962-7873)
- Mark H. Wener (ORCID: https://orcid.org/0000-0002-8304-6957)
- D. Sayer (ORCID: https://orcid.org/0009-0003-7323-043X)
- Alan H. Beggs (ORCID: https://orcid.org/0000-0001-8818-0568)
- Laurens Wiel (ORCID: https://orcid.org/0000-0003-3410-760X)
- Yong‐hui Jiang (ORCID: https://orcid.org/0000-0001-6188-8806)
- Adriana Rebelo (ORCID: https://orcid.org/0000-0001-5669-7415)
- Thomas A. Cassini (ORCID: https://orcid.org/0000-0002-3522-2135)
- Y. Manabe (ORCID: https://orcid.org/0000-0002-9255-5892)
- Joanna C. Jen (ORCID: https://orcid.org/0000-0002-2319-7032)
- John A. Phillips (ORCID: https://orcid.org/0000-0001-9339-531X)
- Ayuko Iverson
- W. K. Halstead
- Hsiao‐Tuan Chao (ORCID: https://orcid.org/0000-0002-2854-5470)
- Kahlen Darr
- Emily Shelkowitz (ORCID: https://orcid.org/0000-0003-1911-1846)
- Sirisak Chanprasert
- Lynette Rives
- Jason Hom (ORCID: https://orcid.org/0000-0002-8404-5796)
- B.D. Mitchell
- Orpa Jean-Marie
- Isabelle Cooperstein (ORCID: https://orcid.org/0000-0001-9080-4077)
- Justin Alvey
- Khurram Liaqat (ORCID: https://orcid.org/0000-0002-0792-5773)
- Alex Paul (ORCID: https://orcid.org/0000-0002-1667-6297)
- Jimann Shin (ORCID: https://orcid.org/0000-0003-1027-0517)
- Danny E. Miller (ORCID: https://orcid.org/0000-0001-6096-8601)
- Russell J. Butterfield (ORCID: https://orcid.org/0000-0002-8452-7189)
- Andrea Lynne Gropman (ORCID: https://orcid.org/0000-0002-2106-6776)
- Isum Ward
- Albert R. La Spada (ORCID: https://orcid.org/0000-0001-6151-2964)
- Neil A. Hanchard (ORCID: https://orcid.org/0000-0003-1925-2665)
- MayChristine V. Malicdan (ORCID: https://orcid.org/0000-0003-1697-6959)
- Jiayu Fu (ORCID: https://orcid.org/0000-0003-0719-201X)
- Joseph Loscalzo
- Surendra Dasari (ORCID: https://orcid.org/0000-0002-7972-3556)
- Naghmeh Dorrani
- Manisha Balwani
- Timothy Schedl
- Elaine Seto (ORCID: https://orcid.org/0000-0002-2650-4691)
- Brent L. Fogel (ORCID: https://orcid.org/0000-0001-9831-1576)
- Seth J. Perlman (ORCID: https://orcid.org/0000-0001-5976-5559)
- Daniel James Rader (ORCID: https://orcid.org/0000-0002-9245-9876)
- Edward M. Behrens (ORCID: https://orcid.org/0000-0002-4603-7963)
- Dustin Baldridge (ORCID: https://orcid.org/0000-0002-6027-6020)
- Christopher N. Mayhew (ORCID: https://orcid.org/0000-0002-7408-1726)
- Kathy Sisco
- Ronit Marom (ORCID: https://orcid.org/0000-0003-3524-661X)
- Joan Marilyn Stoler (ORCID: https://orcid.org/0000-0001-8885-1528)
- Nara Sobreira (ORCID: https://orcid.org/0000-0002-5228-5613)
- Odelya Kaufman (ORCID: https://orcid.org/0000-0002-0483-354X)
- Andrew B. Stergachis (ORCID: https://orcid.org/0000-0002-1299-3674)
- Yan Huang (ORCID: https://orcid.org/0000-0001-7607-9585)
- Monika Weisz Hubshman
- David A. Sweetser (ORCID: https://orcid.org/0000-0002-1621-3284)
- T. Nicholas (ORCID: https://orcid.org/0000-0002-2176-0530)
- Stanley F. Nelson (ORCID: https://orcid.org/0000-0002-2082-3114)
- Heidi Wood (ORCID: https://orcid.org/0000-0003-4596-7349)
- Queenie Shu Woon Tan
- Kirsten Blanco (ORCID: https://orcid.org/0000-0002-8796-3744)
- Donna Novacic
- Allyn McConkie‐Rosell (ORCID: https://orcid.org/0000-0003-3742-7799)
- Lynne A. Wolfe (ORCID: https://orcid.org/0000-0001-7628-5741)
- Tarun Karthik Kumar Mamidi (ORCID: https://orcid.org/0000-0002-9484-257X)
- Susan Shin (ORCID: https://orcid.org/0000-0003-2275-1342)
- Andrew McMinn (ORCID: https://orcid.org/0000-0002-2133-3854)
- Brianna M. Tucker (ORCID: https://orcid.org/0000-0002-5238-3504)
- George Carvalho (ORCID: https://orcid.org/0000-0003-4488-6168)
- Herman A. Taylor (ORCID: https://orcid.org/0000-0003-3623-7264)
- Rizwan Hamid (ORCID: https://orcid.org/0000-0003-3722-2734)
- Aaron R. Quinlan (ORCID: https://orcid.org/0000-0003-1756-0859)
- José E. Abdenur (ORCID: https://orcid.org/0000-0002-4671-1241)
- Corrine Kolka Welt (ORCID: https://orcid.org/0000-0002-8219-5504)
- Winston Timp (ORCID: https://orcid.org/0000-0003-2083-6027)
- Laurel A. Cobban
- J. Carl Pallais
- Shilpa N. Kobren (ORCID: https://orcid.org/0000-0003-1264-6098)
- Michael Muriello (ORCID: https://orcid.org/0000-0003-0386-7622)
- Cathy Shyr (ORCID: https://orcid.org/0000-0001-7466-0034)
- Lisa Emrick (ORCID: https://orcid.org/0000-0002-4844-9056)
- Daryl A. Scott (ORCID: https://orcid.org/0000-0003-1460-5169)
- Arjun Tarakad (ORCID: https://orcid.org/0000-0003-0409-2363)
- Nicholas A. Borja (ORCID: https://orcid.org/0000-0002-9199-9096)
- Ian R. Lanza (ORCID: https://orcid.org/0000-0002-9858-3384)
- Bruce D. Gelb (ORCID: https://orcid.org/0000-0001-8527-5027)
- Elizabeth Wohler (ORCID: https://orcid.org/0000-0001-6189-9839)
- Lauren Jeffries (ORCID: https://orcid.org/0000-0002-6419-0515)
- Jared A. Sninsky (ORCID: https://orcid.org/0000-0001-8642-2244)
- Jennifer C. Schymick (ORCID: https://orcid.org/0000-0002-7401-0493)
- Deepak A. Rao (ORCID: https://orcid.org/0000-0001-9672-7746)
- Brendan C. Lanpher (ORCID: https://orcid.org/0000-0002-8899-3582)
- Isaac S. Kohane (ORCID: https://orcid.org/0000-0003-2192-5160)
- Shinya Yamamoto
- Patrick D. McMullen (ORCID: https://orcid.org/0000-0002-9635-932X)
- Francis Rossignol (ORCID: https://orcid.org/0000-0002-8896-1468)
- Hongzheng Dai (ORCID: https://orcid.org/0000-0002-0103-876X)
- Matt Velinder (ORCID: https://orcid.org/0000-0003-3350-8647)
- Tahseen Mozaffar (ORCID: https://orcid.org/0000-0002-1230-0188)
- Richard A. Lewis (ORCID: https://orcid.org/0000-0002-1140-4575)
- Wendy H. Raskind (ORCID: https://orcid.org/0000-0001-8141-9054)
- Andrew B. Crouse (ORCID: https://orcid.org/0000-0003-3499-6902)
- Ghayda Mirzaa (ORCID: https://orcid.org/0000-0003-2648-7657)
- Elsa Balton (ORCID: https://orcid.org/0000-0002-5699-3895)
- Eric R. Gamazon (ORCID: https://orcid.org/0000-0003-4204-8734)
- Tanner Jensen (ORCID: https://orcid.org/0000-0002-1873-8607)
- Michael F. Wangler (ORCID: https://orcid.org/0000-0001-5245-5910)
- Leoyklang Petcharet
- Erin McRoy
- Hui Zhang (ORCID: https://orcid.org/0000-0001-6825-5649)
- Manuela Silva (ORCID: https://orcid.org/0000-0003-4677-870X)
- Mustafa Tekin (ORCID: https://orcid.org/0000-0002-7339-0324)
- Chun‐Hung Chan (ORCID: https://orcid.org/0000-0001-9646-2944)
- Hector Rodrigo Mendez
- Margaret Delgado
- Rachel Li (ORCID: https://orcid.org/0000-0002-8112-4237)
- Emily Wang (ORCID: https://orcid.org/0000-0001-6760-9046)
- Alexander Miller (ORCID: https://orcid.org/0000-0002-0662-9673)
- Paolo Moretti (ORCID: https://orcid.org/0000-0002-7462-4436)
- Kevin S. Smith (ORCID: https://orcid.org/0000-0003-2432-1928)
- Hua Dong Xu (ORCID: https://orcid.org/0000-0001-9730-7276)
- Gail P. Jarvik
- Camilo Toro (ORCID: https://orcid.org/0000-0001-7139-0518)
- Precilla D’Souza (ORCID: https://orcid.org/0009-0007-0395-1011)
- Nicola Longo (ORCID: https://orcid.org/0000-0002-3677-1216)
- Caroline Hendry (ORCID: https://orcid.org/0009-0000-9237-7558)
- Anna Hurst (ORCID: https://orcid.org/0000-0002-9765-9703)
- William A. Gahl (ORCID: https://orcid.org/0000-0003-2922-692X)
- Vandana Shashi
- Jonathan A. Bernstein (ORCID: https://orcid.org/0000-0001-5369-346X)
- William J. Craigen
- Ben Afzali
- Christine M. Eng
- Ashley Andrews (ORCID: https://orcid.org/0000-0001-7032-4594)
- Lauren C. Briere (ORCID: https://orcid.org/0000-0002-6599-2907)
- Stephanie M. Ware
- Alden Huang (ORCID: https://orcid.org/0000-0001-9635-0969)
- Lisa Bastarache
- Eneida A. Mendonça
- Rachel Evard
- Monkol Lek
- Devin Oglesbee
- Lindsay C. Burrage
- Seema R. Lalani
- Jennefer N. Kohler
- A. Bale
- Lance H. Rodan
- David R. Adams
- Lilianna Solnica-Krezel
- Carson Smith
- Ramakrishnan Rajagopalan
- Katrina M. Dipple
- Virginia P. Sybert
- Colleen E. Wahl
- Richard L. Maas
- Gary Clark
- Jill A. Rosenfeld
- Patricia A. Ward
- Paul S. Berger
- Shamil R. Sunyaev
- Erin E. Baldwin
- Stephan Züchner (ORCID: https://orcid.org/0000-0001-5669-7415)
- Esteban C. Dell’Angelica
- Martín G. Martín
- Euan A. Ashley
- Mafalda Barbosa
- Matthew Might
- Alyssa A. Tran
- Jordan Whitlock
- Frances A. High
- Monte Westerfield
- Joanna M. Gonzalez
- Rebecca C. Spillmann
- Jennifer Tousseau
- Kelly Regan-Fendt
- Teodoro Jerves Serrano
- Layal F. Abi Farraj
- Miranda Leitheiser
- Mia Levanto
- Jason Schend
- Taylor Beagle
- Arian Nouraee
- Francisco Bustos velasq
Institutions
- Harvard University (US)
- University of Utah (US)
- Fund for the Replacement of Animals in Medical Experiments (GB)
- Stanford Medicine (US)
- Stanford University (US)
Publication Details
- Journal
- Genome Medicine
- Published
- 2025-10-21
- DOI
- https://doi.org/10.1186/s13073-025-01546-1
- Citations
- 6
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 10.90
Funders
- National Institutes of Health
- National Human Genome Research Institute
- Common Fund