HiFi long-read genomes for difficult-to-detect, clinically relevant variants

2025/01/13 by Wolfram Höps, Marjan M. Weiss, Ronny Derks +15 · 14 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Genomics and Rare Diseases #Genomic variations and chromosomal abnormalities #Genetic factors in colorectal cancer

paper · doi:10.1016/j.ajhg.2024.12.013

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• Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references
• Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders
• Accelerated, Accurate, Hybrid Short and Long Reads Alignment and Variant Calling
• Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing. [europepmc]
• A Hitchhiker's Guide to long-read genomic analysis. [europepmc]
• Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing. [europepmc]
• Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders. [europepmc]
• Long-read genome sequencing enhances diagnostics of pediatric neurological disorders. [europepmc]
• A novel and accelerated method for integrated alignment and variant calling from short and long reads. [europepmc]
• Integrative analysis of in silico predictions and clinical evidence to delineate the capability of HiFi long-read sequencing in paralogous genes. [europepmc]
• A clinical protocol for the detection of comorbidities associated with monogenic causes of male infertility. [europepmc]
• Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples. [europepmc]
• Long-read genome sequencing increases genomic yield in congenital heart disease [europepmc]
• HiFi sequencing accurately identifies clinically relevant variants in paralogous genes [europepmc]