Publications by authors named "C Vitek"
Background: Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from exome and genome data (EGBP) are effective for rare diseases, the ideal diagnostic approach is debated. Limited research has explored reanalyzing raw ES and GS data post-negative EGBP results for diagnostics.
Results: We analyzed complete ES/GS raw sequencing data from Mayo Clinic's Program for Rare and Undiagnosed Diseases (PRaUD) patients to assess whether supplementary findings could augment diagnostic yield.
Most rare disease patients (75-50%) undergoing genomic sequencing remain unsolved, often due to lack of information about variants identified. Data review over time can leverage novel information regarding disease-causing variants and genes, increasing this diagnostic yield. However, time and resource constraints have limited reanalysis of genetic data in clinical laboratories setting.
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- * A new study using phylogenomic analysis has clarified the phylogeny of mosquitoes, revealing their origins date back to the early Triassic period, which is significantly older than earlier estimates.
- * The research indicates that mosquitoes have repeatedly shifted to feeding on mammals throughout their evolution, with these changes often aligning with major continental drift and vertebrate diversification events.