Shedding light on dark genes

Enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

Date & Time

July 29, 2020 | 8 am PDT (5pm CEST)

Webinar Description

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.

Webinar Registration


Prof. Massimo Delledonne
Professor of Genetics | Department of Biotechnology, University of Verona

Massimo Delledonne is Professor of Genetics at the Department of Biotechnology, University of Verona. He coordinates an extensive program of research characterized by an interdisciplinary approach that connects genetics, molecular biology, bioinformatics and genomics, specializing on human genome sequencing and interpretation in a clinical setting. His main focus is on the characterization of those parts of the genome that are not shared among all genotypes of a species and that can contribute to the establishment of differences in phenotype. Comparison of the different technologies available and testing of new emerging technologies for DNA sequencing and analysis is another integral part of his mission.
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