Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data

BACKGROUND: Targeted sequencing approaches such as gene panel or exome sequencing have become standard of care for the diagnosis of rare and common genetic disease. The detection and interpretation of point mutations, small insertions and deletions, and even exon‐level copy number variants are well...

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Detalles Bibliográficos
Autores principales: Demidov, German, Park, Joohyun, Armeanu‐Ebinger, Sorin, Roggia, Cristiana, Faust, Ulrike, Cordts, Isabell, Blandfort, Maria, Haack, Tobias B., Schroeder, Christopher, Ossowski, Stephan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683623/
https://www.ncbi.nlm.nih.gov/pubmed/34491624
http://dx.doi.org/10.1002/mgg3.1807

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683623/
https://www.ncbi.nlm.nih.gov/pubmed/34491624
http://dx.doi.org/10.1002/mgg3.1807

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