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Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge
The use of gene panel sequence for diagnostic and prognostic testing is now widespread, but there are so far few objective tests of methods to interpret these data. We describe the design and implementation of a gene panel sequencing data analysis pipeline (VarP) and its assessment in a CAGI4 commun...
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| Pubblicato in: | Hum Mutat |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5576720/ https://ncbi.nlm.nih.gov/pubmed/28497567 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23249 |
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