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Analysis of DNA Sequence Variants Detected by High Throughput Sequencing
The Undiagnosed Diseases Program at the National Institutes of Health uses High Throughput Sequencing (HTS) to diagnose rare and novel diseases. HTS techniques generate large numbers of DNA sequence variants, which must be analyzed and filtered to find candidates for disease causation. Despite the p...
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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3959770/ https://ncbi.nlm.nih.gov/pubmed/22290882 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22035 |
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