A5114965761- Cancer Genomics and Diagnostics
- Health, Environment, Cognitive Aging
- Genomics and Phylogenetic Studies
- Cardiovascular Function and Risk Factors
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
Accurate identification of de novo variants (DNVs) remains challenging despite advances in sequencing technologies, often requiring ad hoc filters and manual inspection. Here, we explored a purely informatic, consensus-based approach for identifying DNVs proband-parent trios using short-read genome data. We evaluated variant calls generated by three sequence analysis pipelines-GATK HaplotypeCaller, DeepTrio, Velsera GRAF-and examined the assumption that requirement consensus can serve as an...
ABSTRACT Gene panels represent a widely used strategy for genetic testing in vast range of Mendelian disorders. While this approach aids reliable bioinformatic detection short coding variants, it fails to detect most larger variants. Recent studies have recommended the adoption pangenomes augment large variants from targeted sequencing, potentially providing diagnostic laboratories with possibility streamline work-ups and reduce costs. Here, we analyze large-scale cohort comprising 1,952...