Exome and Genome Sequencing
Professional Society Guidance
Clinical Utility — Improving Patient Outcomes
Health Economics
Cost-Effectiveness Analyses
Real-World Evidence
Diagnostic Yield
Systematic Evidence Reviews and Meta-Analyses
Sponsored Testing Programs
- Molecular Genetics and Metabolism · 2023 Pompe disease ascertained through The Lantern Project, 2018–2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis
- Annals of Clinical and Translational Neurology · 2023 Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies
Additional Research
- JAMA Network Open · 2023 At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children
- Revvity Genetic testing: a critical tool for diagnosing rare disorders and enhancing patient care
- Journal of Molecular Diagnostics · 2020 Design and Reporting Considerations for Genetic Screening Tests
- Journal of Medical Genetics · 2025 Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis
- Frontiers in Neurology · 2020 Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent
- Orphanet Journal of Rare Diseases · 2020 The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease