Скачать с ютуб Shedding light on dark genes - enhanced targeted resequencing | Massimo Delledonne в хорошем качестве

Shedding light on dark genes - enhanced targeted resequencing | Massimo Delledonne

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.