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
  • Advancing access to genome seq...
  • Cite this
  • Text this
  • Email this
  • Print
  • Export Record
    • Export to RefWorks
    • Export to EndNoteWeb
    • Export to EndNote
  • Permanent link
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action

Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action

Bibliographic Details
Main Authors: Vaidehi Jobanputra, Brock Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna Ellsworth, Euan Ashley, Ryan J. Taft, on behalf of the Medical Genome Initiative
Format: Article
Language:English
Published: Nature Portfolio 2024-03-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-024-00410-2
  • Holdings
  • Description
  • Similar Items
  • Staff View
Description
ISSN:2056-7944

Similar Items

  • The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic
    by: Christian R. Marshall, et al.
    Published: (2020-05-01)
  • Clinical utility of genomic sequencing: a measurement toolkit
    by: Robin Z. Hayeems, et al.
    Published: (2020-12-01)
  • Best practices for the interpretation and reporting of clinical whole genome sequencing
    by: Christina A. Austin-Tse, et al.
    Published: (2022-04-01)
  • Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders
    by: Kristen M. Wigby, et al.
    Published: (2024-02-01)
  • Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
    by: Stephen F. Kingsmore, et al.
    Published: (2024-02-01)

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