Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
NPJ Genom Med
.
2024 Mar 27;9(1):23.
doi: 10.1038/s41525-024-00410-2.
Authors
Vaidehi Jobanputra
1
2
,
Brock Schroeder
3
,
Heidi L Rehm
4
5
,
Wei Shen
6
,
Elizabeth Spiteri
7
,
Ghunwa Nakouzi
8
,
Stacie Taylor
9
,
Christian R Marshall
10
,
Linyan Meng
11
,
Stephen F Kingsmore
12
,
Katarzyna Ellsworth
12
,
Euan Ashley
13
,
Ryan J Taft
14
;
Medical Genome Initiative
Affiliations
1
Molecular Diagnostics, New York Genome Center, New York, NY, USA.
[email protected]
.
2
Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
[email protected]
.
3
Market Access, Illumina Inc., San Diego, CA, USA.
4
Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
5
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
6
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
7
Clinical Genomics, Department of Pathology, Stanford Medicine, Palo Alto, CA, USA.
8
HudsonAlpha Clinical Services Lab, LLC, HudsonAlpha Institute for Biotechnology, Birmingham, AL, USA.
9
Medical Affairs, Illumina Inc., San Diego, CA, USA.
10
Division of Genome Diagnostics, Pediatric Laboratory Medicine Department, The Hospital for Sick Children, Toronto, ON, Canada.
11
Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
12
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, USA.
13
Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
14
Medical Genomics Research, Illumina Inc., San Diego, CA, USA.
PMID:
38538605
PMCID:
PMC10973466
DOI:
10.1038/s41525-024-00410-2
No abstract available