Genome and RNA Sequencing Boost Neuromuscular Diagnoses to 62% from 34% with Exome Sequencing Alone.
Rhett G. Marchant,Samantha J. Bryen,Melanie Bahlo,Anita Cairns,Katherine R. Chao,Alastair Corbett,Mark R. Davis,Vijay S. Ganesh,Roula Ghaoui,Kristi J. Jones,Andrew J. Kornberg,Monkol Lek,Christina Liang,Daniel G. MacArthur,Emily C. Oates,Anne O'Donnell-Luria,Gina L. O'Grady,Ikeoluwa A. Osei-Owusu,Haloom Rafehi,Stephen W. Reddel,Richard H. Roxburgh,Monique M. Ryan,Sarah A. Sandaradura, Liam W. Scott,Elise Valkanas,Ben Weisburd,Helen Young,Frances J. Evesson,Leigh B. Waddell,Sandra T. Cooper ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY（2024）
Key words
Exome Sequencing,DNA Mismatch Repair
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