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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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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: Nishio, Shin‐ya, Moteki, Hideaki, Usami, Shin‐ichi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2018
Konular:
Online Erişim: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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