Assessing copy number from exome sequencing and exome array cgh based on cnv spectrum in a large clinical cohort

HIGHLIGHTS

• who: Kyle Retterer from the Exome sequencing was performed on exon targets isolated by capture using the Agilent SureSelect Human All Exon , (, Mb) kit (Agilent Technologies)One microgram of DNA from the blood specimen was sheared into, to, bp fragments, which were then repaired, ligated to adapters, and purified for subsequent polymerase chain reaction amplification. Amplified products were then captured by biotinylated RNA library baits in solution following the manufacturer's instructions. Bound DNA was isolated with streptavidincoated beads and reamplified. The final isolated products were sequenced using the Illumina HiSeq , sequencing system with, bp paired-end . . .
  

   

  

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