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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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Nishio, Shin‐ya, Moteki, Hideaki, Usami, Shin‐ichi
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6081219/
https://ncbi.nlm.nih.gov/pubmed/29633566
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.399
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