Artikel: Closing the gap: Solving complex medically relevant genes at scale.
medRxiv : the preprint server for health sciences
2024
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 ... ...
| 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 |
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| Sprache | Englisch |
| Erscheinungsdatum | 2024-03-18 |
| Erscheinungsland | United States |
| Dokumenttyp | Preprint |
| DOI | 10.1101/2024.03.14.24304179 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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