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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...
में बचाया:
| में प्रकाशित: | Hum Mutat |
|---|---|
| मुख्य लेखकों: | , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
2017
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| विषय: | |
| ऑनलाइन पहुंच: | 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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