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Webinar
Twist Bioscience HQ
681 Gateway Blvd
South San Francisco, CA 94080
Shedding Light on Dark Genes
Enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length
Presented by
Prof. Massimo Delledonne
Professor of Genetics, Department of Biotechnology, University of Verona
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.
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