npj Genomic Medicine (Mar 2024)
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
- 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
Affiliations
- Vaidehi Jobanputra
- Molecular Diagnostics, New York Genome Center
- Brock Schroeder
- Market Access, Illumina Inc.
- Heidi L. Rehm
- Medical and Population Genetics, Broad Institute of MIT and Harvard
- Wei Shen
- Department of Laboratory Medicine and Pathology, Mayo Clinic
- Elizabeth Spiteri
- Clinical Genomics, Department of Pathology, Stanford Medicine
- Ghunwa Nakouzi
- HudsonAlpha Clinical Services Lab, LLC, HudsonAlpha Institute for Biotechnology
- Stacie Taylor
- Medical Affairs, Illumina Inc.
- Christian R. Marshall
- Division of Genome Diagnostics, Pediatric Laboratory Medicine Department, The Hospital for Sick Children
- Linyan Meng
- Molecular and Human Genetics, Baylor College of Medicine
- Stephen F. Kingsmore
- Rady Children’s Institute for Genomic Medicine, Rady Children’s Hospital
- Katarzyna Ellsworth
- Rady Children’s Institute for Genomic Medicine, Rady Children’s Hospital
- Euan Ashley
- Stanford Center for Undiagnosed Diseases, Stanford University
- Ryan J. Taft
- Medical Genomics Research, Illumina Inc.
- on behalf of the Medical Genome Initiative
- DOI
- https://doi.org/10.1038/s41525-024-00410-2
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 3
Abstract
No abstracts available.