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pro vyhledávání: '"on behalf of the Medical Genome Initiative"'
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
Autor:
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
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-3 (2024)
Externí odkaz:
https://doaj.org/article/9bb3ad6b45f84c10a06a89c6cbf0b68e
Autor:
Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi Rehm, on behalf of the Medical Genome Initiative
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-4 (2020)
Abstract Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with rare disease. However, there are barriers to its widespread adoption, including a lack of standards for clinical practice. The Medical Genome Initiativ
Externí odkaz:
https://doaj.org/article/4264dfc1843f467c90a0e29dff46fc69