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Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management

21 Apr 2022

Abstract excerpt

STUDY QUESTION: What is the load, distribution and added clinical value of secondary findings (SFs) identified in exome sequencing (ES) of patients with non-obstructive azoospermia (NOA)? SUMMARY ANSWER: One in 28 NOA cases carried an identifiable, medically actionable SF. WHAT IS KNOWN ALREADY: In addition to molecular diagnostics, ES allows assessment of clinically actionable disease-related gene variants that...

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PMID: 35535697
DOI: 10.1093/humrep/deac100

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