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Attend a keynote webinar exploring advanced genomic sequencing solutions for analyzing complex medically relevant genes that are traditionally difficult to study with standard sequencing methods. Learn about the challenges posed by "dark regions" of the human genome - complex and repetitive gene sequences that are inaccurately represented in short-read sequencing data analysis, yet contain crucial medical information for personalized medicine and disease understanding. Discover the Twist Alliance Dark Genes Panel (TADGP), an innovative targeted sequencing and analysis framework designed to provide phased variants across 389 medically important but complex autosomal genes at a fraction of the cost of traditional HiFi whole-genome sequencing. Examine how TADGP achieves variant calling accuracy comparable to HiFi-WGS data while enabling scalability and broad applicability for rare disease research and complementing previously sequenced samples. Explore real-world applications through case studies from rare disease and cardiovascular disease cohorts, including the identification of novel variants affecting disease-associated genes such as IKZF1 and KCNE1, and insights into LPA diversity. Understand the ongoing challenges in variant annotation due to underrepresentation in databases like ClinVar and gnomAD, and learn about new annotation resources being developed to enhance variant evaluation and prioritization. Gain insights from Dr. Medhat Mahmoud's expertise in developing computational methods for genomic variation detection, including his work on large-scale projects such as CCDG, GREGoR Consortium, and All of Us, and participate in a live Q&A session to deepen your understanding of this cutting-edge approach to genomic analysis.
