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CAGI4 SickKids clinical genomes challenge: a pipeline for identifying pathogenic variants
Compared with earlier more restricted sequencing technologies, identification of rare disease variants using whole genome sequence has the possibility of finding all causative variants, but issues of data quality and an overwhelming level of background variants complicate the analysis. The CAGI4 Sic...
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| Publicado no: | Hum Mutat |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5577808/ https://ncbi.nlm.nih.gov/pubmed/28512736 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23257 |
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