Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Targeted next-generation sequencing (NGS) is a cost-effective approach for rapid and accurate detection of genetic mutations in patients with suspected genetic disorders, which can facilitate effective diagnosis.We designed a capture array to mainly capture all the coding sequence (CDS) of 2,181 gen...
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| Principais autores: | , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science (PLoS)
2015-01-01
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| coleção: | PLoS ONE |
| Acesso em linha: | http://europepmc.org/articles/PMC4537117?pdf=render |
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