Publications by authors named "Myriam Poirier"
Purpose: To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases.
Methods: We prospectively enrolled 297 probands who met eligibility criteria and received ES across 5 sites in Ontario, Canada, and extracted data from medical records and clinician surveys. Using the Fryback and Thornbury Efficacy Framework, we assessed diagnostic accuracy by examining laboratory interpretation of results and assessed diagnostic thinking by examining the clinical interpretation of results and whether clinical-molecular diagnoses would have been achieved via alternative hypothetical molecular tests.
Article Synopsis
- Genomic copy number variants (CNVs), particularly deletions and duplications, have been linked to cognitive ability, but their specific effects on intelligence are still not fully understood, especially for duplications.
- The study involved analyzing CNVs from over 24,000 individuals and used statistical models to show that deletions decrease intelligence more significantly than duplications, with certain genes being intolerant to haploinsufficiency playing a key role.
- The findings indicate that while a small fraction of genes has a significant negative impact on intelligence, the overall effects on cognition may stem from complex interactions within the genome rather than just a few specific pathways.