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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| 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 |