Introduction: Computational analysis of genome or exome sequences may improve inherited disease diagnosis, but is costly and time-consuming.
Methods: We describe the use of , a web-based tool suite for intuitive, real-time genome diagnostic analyses.
Results: We used to identify the disease-causing variant in a patient with early infantile epileptic encephalopathy with prior nondiagnostic genetic testing.
Conclusions: tools can be used by clinicians to rapidly identify disease-causing variants from genomic patient sequencing data.
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Source |
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915807 | PMC |
| http://dx.doi.org/10.1017/cts.2017.311 | DOI Listing |
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