Skip to content
VuFind
    • English
    • Deutsch
    • Español
    • Français
    • Italiano
    • 日本語
    • Nederlands
    • Português
    • Português (Brasil)
    • 中文(简体)
    • 中文(繁體)
    • Türkçe
    • עברית
    • Gaeilge
    • Cymraeg
    • Ελληνικά
    • Català
    • Euskara
    • Русский
    • Čeština
    • Suomi
    • Svenska
    • polski
    • Dansk
    • slovenščina
    • اللغة العربية
    • বাংলা
    • Galego
    • Tiếng Việt
    • Hrvatski
    • हिंदी
    • Հայերէն
    • Українська
    • Sámegiella
    • Монгол
Advanced
  • P575: The Rare Genomes Project...
  • Cite this
  • Text this
  • Email this
  • Print
  • Export Record
    • Export to RefWorks
    • Export to EndNoteWeb
    • Export to EndNote
  • Permanent link
P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease*

P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease*

Bibliographic Details
Main Authors: Christina Austin-Tse, Stephanie DiTroia, Melanie O'Leary, Grace VanNoy, Brian Mangilog, Gulalai Shah, Eva Martinez, Jillian Serrano, Lynn Pais, Emily O'Heir, Ikeoluwa Osei-Owusu, Gabrielle Lemire, Vijay Ganesh, Sarah Stenton, Mutaz Amin, Kayla Socarras, Mugdha Singh, Stacey Hall, Katie Larsson, Moriel Singer-Berk, Daniel Marten, Michael Wilson, Hana Snow, Benjamin Blankenmeister, Jialan Ma, Ben Weisburd, Alba Sanchis-Juan, Harrison Brand, Emily Groopman, Alysia Lovgren, Clara Williamson, Marissa Hollyer, Eleina England, Eleanor Seaby, Katherine Chao, Julia Goodrich, Samantha Baxter, Daniel MacArthur, Michael Talkowski, Monica Wojcik, Anne O'Donnell-Luria, Heidi Rehm
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424006277
  • Holdings
  • Description
  • Similar Items
  • Staff View

Internet

http://www.sciencedirect.com/science/article/pii/S2949774424006277

Similar Items

  • Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
    by: Sarah L. Stenton, et al.
    Published: (2024-04-01)
  • Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease
    by: Abderrahim Marouane, et al.
    Published: (2024-01-01)
  • Del 575 al 709
    Published: (1998-04-01)
  • 21W.742J / SP.575J / WGS.575J Writing About Race, Spring 2007
    by: Faery, Rebecca Blevins
    Published: (2007)
  • 21W.742J / SP.575J / WGS.575J Writing About Race, Spring 2003
    by: Faery, Rebecca Blevins
    Published: (2003)

Search Options

  • Search History
  • Advanced Search

Find More

  • Browse the Catalog
  • Browse Alphabetically
  • Explore Channels
  • Course Reserves
  • New Items

Need Help?

  • Search Tips
  • Ask a Librarian
  • FAQs