Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher

Although the rates of disease gene discovery have steadily increased with the expanding use of genome and exome sequencing by clinical and research laboratories, only ~16% of genes in the genome have confirmed disease associations. Here we describe our clinical laboratory's experience utilizing...

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Detalles Bibliográficos
Autores principales: Towne, Meghan C., Rossi, Mari, Wayburn, Bess, Huang, Jennifer M., Radtke, Kelly, Alcaraz, Wendy, Farwell Hagman, Kelly D., Shinde, Deepali N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Informatics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9313781/
https://www.ncbi.nlm.nih.gov/pubmed/35143109
http://dx.doi.org/10.1002/humu.24342

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9313781/
https://www.ncbi.nlm.nih.gov/pubmed/35143109
http://dx.doi.org/10.1002/humu.24342

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