Molecular diagnostics of Mendelian disorders via combined DNA and RNA sequencing

Prokisch, H

Prokisch, H (reprint author), Tech Univ Munich, Klinikum Rechts Isar, Inst Humangenet, Trogerstr 32, D-81675 Munich, Germany.

MEDIZINISCHE GENETIK, 2019; 31 (2): 191

Abstract

The diagnostic yield in rare disorders is currently less than 50% although sequencing technologies in use are able to detect the majority of possible ......

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