Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action-Reference-Cited by-同舟云学术

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

Published:2024-03-27 Issue:1 Volume:9 Page:
ISSN:2056-7944
Container-title:npj Genomic Medicine
language:en
Short-container-title:npj Genom. Med.

Author:

Jobanputra Vaidehi^ORCID,Schroeder Brock^ORCID,Rehm Heidi L.^ORCID,Shen Wei,Spiteri Elizabeth,Nakouzi Ghunwa,Taylor Stacie^ORCID,Marshall Christian R.^ORCID,Meng Linyan,Kingsmore Stephen F.^ORCID,Ellsworth Katarzyna^ORCID,Ashley Euan,Taft Ryan J.,

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41525-024-00410-2.pdf

Reference26 articles.

1. Nguengang Wakap, S. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur. J. Hum. Genet. 28, 165–173 (2020).

2. Bick, D., Jones, M., Taylor, S. L., Taft, R. J. & Belmont, J. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J. Med. Genet. 56, 783–791 (2019).

3. United States Government Accountability Office (GAO) Report to Congressional Committees. Rare Diseases: Although Limited, Available Evidence Suggests Medical and Other Costs Can Be Substantial. https://www.gao.gov/assets/gao-22-104235.pdf (2021).

4. Chung, C. C. Y. et al. Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations. Genet. Med. 25, 100896 (2023).

5. Abul-Husn, N. S. et al. Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients. Genet. Med. 25, 100880 (2023).