Clinical Diagnosis through Whole-Genome Sequencing

Platelet function study was consistent with a platelet secretion disorder, and a bone marrow biopsy was planned. The molecular diagnosis explained his thrombocytopenia without need of a bone marrow biopsy. 3. Author Contributions: All authors confirmed they have contributed to the intellectual content ofthispaper and have met the following 4 requirements: (a) significant contributions to the conception and design, acquisition ofdata, or analysis and interpretation ofdata; (b) drafting or revising thearticleforintellectualcontent;(c)finalapprovalofthepublishedarticle; and (d) agreement to be accountable for all aspects of the article thus ensuring thatquestion related to the accuracy or integrity ofanypart ofthe article are appropriately investigated and resolved.