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

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

Afiliação

Jobanputra V; Molecular Diagnostics, New York Genome Center, New York, NY, USA. vjobanputra@nygenome.org.
Schroeder B; Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA. vjobanputra@nygenome.org.
Rehm HL; Market Access, Illumina Inc., San Diego, CA, USA.
Shen W; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Spiteri E; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Nakouzi G; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Taylor S; Clinical Genomics, Department of Pathology, Stanford Medicine, Palo Alto, CA, USA.
Marshall CR; HudsonAlpha Clinical Services Lab, LLC, HudsonAlpha Institute for Biotechnology, Birmingham, AL, USA.
Meng L; Medical Affairs, Illumina Inc., San Diego, CA, USA.
Kingsmore SF; Division of Genome Diagnostics, Pediatric Laboratory Medicine Department, The Hospital for Sick Children, Toronto, ON, Canada.
Ellsworth K; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Ashley E; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, USA.
Taft RJ; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, USA.

NPJ Genom Med ; 9(1): 23, 2024 Mar 27.

Article em En | MEDLINE | ID: mdl-38538605

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article