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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
There is increasing interest in clinical genetics pertaining to the utilization of high-throughput sequencing data for accurate diagnoses of monogenic diseases. Moreover, massive whole-exome sequencing of tumors has provided significant advances in the understanding of cancer development through the...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912425/ https://www.ncbi.nlm.nih.gov/pubmed/24389049 http://dx.doi.org/10.1101/gr.163832.113 |