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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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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Nishio, Shin‐ya, Moteki, Hideaki, Usami, Shin‐ichi
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2018
Fag:
Online adgang: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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