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Keynote Presentation: Closing the Gap: Solving Complex Medically Relevant Genes at Scale скачать в хорошем качестве

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Keynote Presentation: Closing the Gap: Solving Complex Medically Relevant Genes at Scale
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Keynote Presentation: Closing the Gap: Solving Complex Medically Relevant Genes at Scale

Presented By: Medhat Mahmoud, PhD Speaker Biography: Dr. Medhat Mahmoud earned his PhD in 2018 from the Institute of Bioorganic Chemistry at the Polish Academy of Sciences and the Department of Computational Biology at Adam Mickiewicz University. His doctoral research was conducted under the supervision of Dr. Wojciech Karlowski and Dr. Tomasz Twardowski. Following the completion of his PhD, Dr. Mahmoud joined the Human Genome Sequencing Center at Baylor College of Medicine, working in the lab of Dr. Fritz Sedlazeck. In his current position, he focuses on developing advanced algorithms and computational methods for the detection and analysis of genomic variations, with specific emphasis on Structural Variations (SVs), Single Nucleotide Variations (SNVs), and methylations. Dr. Mahmoud has actively participated in numerous large-scale projects utilizing both short- and long-read sequencing data. Notably, he has contributed to projects such as the CCDG, GREGoR Consortium, and All of Us. His involvement in these initiatives has centered on identifying variants and investigating their impact on phenotype and disease associations. Webinar: Keynote Presentation: Closing the Gap: Solving Complex Medically Relevant Genes at Scale with Live Q&A Webinar Abstract: Comprehending the mechanism behind human diseases with an established heritable component represents the forefront of personalized medicine. Nevertheless, numerous medically important genes are inaccurately represented in short-read sequencing data analysis due to their complexity and repetitiveness or the so-called ‘dark regions’ of the human genome. The advent of PacBio as a long-read platform has provided new insights, yet HiFi whole-genome sequencing (WGS) cost remains frequently prohibitive. We introduce a targeted sequencing and analysis framework, Twist Alliance Dark Genes Panel (TADGP), designed to offer phased variants across 389 medically important yet complex autosomal genes. We highlight TADGP accuracy across eleven control samples and compare it to WGS. This demonstrates that TADGP achieves variant calling accuracy comparable to HiFi-WGS data, but at a fraction of the cost. Thus, enabling scalability and broad applicability for studying rare diseases or complementing previously sequenced samples to gain insights into these complex genes. TADGP revealed several candidate variants across all cases and provided insight into LPA diversity when tested on samples from rare disease and cardiovascular disease cohorts. In both cohorts, we identified novel variants affecting individual disease-associated genes (e.g., IKZF1, KCNE1). Nevertheless, the annotation of the variants across these 389 medically important genes remains challenging due to their underrepresentation in ClinVar and gnomAD. Consequently, we also offer an annotation resource to enhance the evaluation and prioritization of these variants. Overall, we can demonstrate that TADGP offers a cost-efficient and scalable approach to routinely assess the dark regions of the human genome with clinical relevance. Earn PACE Credits: 1. Make sure you’re a registered member of Labroots (https://www.labroots.com/) 2. Watch the webinar on YouTube or on the Labroots Website (https://www.labroots.com/ms/webinar/k...) 3. Click Here to get your PACE credits (Expiration date – May 15, 2026): (https://www.labroots.com/credit/pace-... Labroots on Social: Facebook:   / labrootsinc   Twitter:   / labroots   LinkedIn:   / labroots   Instagram:   / labrootsinc   Pinterest:   / labroots   SnapChat: labroots_inc

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