Clinical exome sequencing (CES) is a routine diagnostic tool for rare Mendelian genetic disorders. The reported rate for identification of the causative single nucleotide variant (SNV) or ...
Long-read sequencing can often overcome the deficiencies in routine microarray or short-read technologies in detecting complex genomic rearrangements. Here we used Pacific Biosciences circular ...
However, ES is not the first choice for detecting copy number variants (CNVs), which are typically deletions or duplications of DNA segments. CNVs cause a significant proportion of genetic disorders.
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