Scalable detection of technically challenging variants through modified next‐generation sequencing

BACKGROUND: Some clinically important genetic variants are not easily evaluated with next‐generation sequencing (NGS) methods due to technical challenges arising from high‐ similarity copies (e.g., PMS2, SMN1/SMN2, GBA1, HBA1/HBA2, CYP21A2), repetitive short sequences (e.g., ARX polyalanine repeats,...

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Detalles Bibliográficos
Autores principales: Rojahn, Susan, Hambuch, Tina, Adrian, Jessika, Gafni, Erik, Gileta, Alex, Hatchell, Hannah, Johnson, Britt, Kallman, Ben, Karfilis, Kate, Kautzer, Curtis, Kennemer, Michael, Kirk, Lloyd, Kvitek, Daniel, Lettes, Jessica, Macrae, Fenner, Mendez, Fernando, Paul, Joshua, Pellegrino, Maurizio, Preciado, Ronny, Risinger, Jan, Schultz, Matthew, Spurka, Lindsay, Swamy, Sajani, Truty, Rebecca, Usem, Nathan, Velenich, Andrea, Aradhya, Swaroop
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747563/
https://www.ncbi.nlm.nih.gov/pubmed/36251442
http://dx.doi.org/10.1002/mgg3.2072

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