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Compared to the low\u2010resolution cytogenetic techniques that were the only available methods to visualize genomic changes at the chromosomal level until some 15 years ago, genome\u2010wide studies including analyses of copy number variation (CNV), genome\u2010wide association and linkage studies, and exome sequencing (ES) provide more accurate information for unraveling the genetic causes of diseases. Moreover, genome sequencing (GS) which interrogates the genome of a single individual at the nucleotide resolution has also been applied in genetic studies. 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