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The human exome contains many obscure regions that are difficult to explore using current short-read sequencing methods. Repetitive genomic regions prevent the unique alignment of reads, which is essential for the identification of clinically-relevant genetic variants. Long-read technologies attempt to resolve multiple-mapping regions, but they still produce many sequencing errors. As a result, a new approach is required to enlighten the obscure regions of the genome and rescue variants that would be otherwise neglected.

In this webinar you will...

  • Learn why ‘genotypability’ (basecalling based on depth of coverage and read alignment) is a better parameter for evaluating performance of whole exome sequencing than depth of coverage alone.
  • Hear how increasing the standard DNA sequence fragment size to extend beyond exonic regions improves alignment of multiple-mapping reads and achieves higher genotypability.  
  • Understand how this can help reveal obscure regions of the exome by increasing variant calling, while reducing starting material and sequencing costs.
  • See the benefits of combining DNA fragment extension and the improved enrichment uniformity of Twist Target Enrichment.