Article

Rapid and Accurate Interpretation of Clinical Exomes Using Phenoxome: a Computational Phenotype-driven Approach

2018-03-02

Abstract excerpt

Clinical exome sequencing (CES) has become the preferred diagnostic platform for complex pediatric disorders with suspected monogenic etiologies, solving up to 20%-50% of cases depending on indication. Despite rapid advancements in CES analysis, the major challenge still resides in identifying the casual variants among the thousands of variants detected during CES testing, and thus establishing a molecular diagnos...

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Literature Corpus work: b0e30497-1844-5417-b6a8-d71c3ef81042
DOI: 10.1101/275479

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