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  1. No Access

    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...

    Steve S. Ho, Alexander E. Urban, Ryan E. Mills in Nature Reviews Genetics (2020)

  2. No Access

    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...

    Colby Chiang, Jessie C Jacobsen, Carl Ernst, Carrie Hanscom… in Nature Genetics (2012)

  3. No Access

    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 ...

    Hansoo Park, Jong-Il Kim, Young Seok Ju, Omer Gokcumen, Ryan E Mills… in Nature Genetics (2010)