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Article
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing
Jeong-Sun Seo and colleagues report a catalog of common CNVs in Asians. The authors integrated high-resolution array CGH data with next-generation DNA sequencing data to discover 3,568 putative Asian-specific ...
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Article
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
Michael Talkowski and colleagues examine karyotypically balanced genomic rearrangement landscapes in the germline at single-nucleotide resolution. They find predominant roles for complex reorganization and non...
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Article
Structural variation in the sequencing era
Identifying structural variation (SV) is essential for genome interpretation but has been historically difficult due to limitations inherent to available genome technologies. Detection methods that use ensembl...