Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

BACKGROUND: Massively parallel DNA sequencing, such as exome sequencing, has become a routine clinical procedure to identify pathogenic variants responsible for a patient’s phenotype. Exome sequencing has the capability of reliably identifying inherited and de novo single-nucleotide variants, small...

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Detalles Bibliográficos
Autores principales: Barseghyan, Hayk, Tang, Wilson, Wang, Richard T., Almalvez, Miguel, Segura, Eva, Bramble, Matthew S., Lipson, Allen, Douine, Emilie D., Lee, Hane, Délot, Emmanuèle C., Nelson, Stanley F., Vilain, Eric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655859/
https://www.ncbi.nlm.nih.gov/pubmed/29070057
http://dx.doi.org/10.1186/s13073-017-0479-0

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