Improved detection and clinical interpretation of rare disease variants

Описание к видео Improved detection and clinical interpretation of rare disease variants

In this talk, Stephan focused on his experience with the bioinformatics analysis of nanopore LR-GS data for rare disease diagnostics, including development and/or application of tools and pipelines for SNV, indel and SV detection, haplotype phasing, estimation of repeat expansion length, genotyping in duplicate genes (e.g., GBA) and haplotype-specific DNA methylation analysis. He then discussed the quality criteria and benchmarking efforts and demonstrated the need for generating large Nanopore LR-GS background dataset to facilitate systemic filtering and efficient clinical interpretation of structural variants in clinical diagnostics.

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