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T1  - Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders? 
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UR  - http://hdl.handle.net/10138/327455 
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A1  - Savarese, Marco; Välipakka, Salla; Johari, Mridul; Hackman, Peter; Udd, Bjarne 
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Y1  - 2020 
LA  - eng 
AB  - Human genes have a variable length. Those having a coding sequence of extraordinary length and a high number of exons were almost impossible to sequence using the traditional Sanger-based gene-by-gene approach. High-throughput sequencing has partly overcome the size-related technical issues, enabling a straightforward, rapid and relatively inexpensive analysis of large genes. Several large genes (e.g. TTN, NEB, RYR1, DMD) are recognized as disease-causing in patients with skeletal muscle disease... 
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KW  - copy number variants (CNV); genetic diagnosis; Large genes; variant interpretation; variants of uncertain significance (VUS); connectin; nebulin; RNA binding protein; ryanodine receptor 1; alternative RNA splicing; biological model; computer model; copy number variation; deep learning; DMD gene; gene; gene size; genetic variability; human; induced pluripotent stem cell; missense mutation; myopathy; NEB gene; nonhuman; pathophysiology; priority journal; Review; RNA sequencing; RYR1 gene; single nucleotide polymorphism; TTN gene; 1184 Genetics, developmental biology, physiology 
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