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Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel

BACKGROUND: Recent advances in molecular genetic analysis using next‐generation sequencing (NGS) have drastically accelerated the identification of disease‐causing gene mutations. Most next‐generation sequencing analyses of inherited diseases have mainly focused on single‐nucleotide variants and sho...

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Detalles Bibliográficos
Autores principales:	Nishio, Shin‐ya, Moteki, Hideaki, Usami, Shin‐ichi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Method
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081219/ https://www.ncbi.nlm.nih.gov/pubmed/29633566 http://dx.doi.org/10.1002/mgg3.399

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