References
- Nambot, S., Thevenon, J., Kuentz, P. et al. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. Genet Med 20, 645–654 (2018). https://doi.org/10.1038/gim.2017.162
- Rabbani, B., Tekin, M. & Mahdieh, N. The promise of whole-exome sequencing in medical genetics. J Hum Genet 59,5–15 (2014). https://doi.org/10.1038/jhg.2013.114
Product Disclaimer:
QCI Interpret is an evidence-based decision support software intended as an aid in the interpretation of variants observed in genomic next-generation sequencing data. The software evaluates genomic variants in the context of published biomedical literature, professional association guidelines, publicly available databases, annotations, drug labels, and clinical trials. Based on this evaluation, the software proposes a classification and bibliographic references to aid in the interpretation of observed variants. The software is NOT intended as a primary diagnostic tool by physicians or to be used as a substitute for professional healthcare advice. Each laboratory is responsible for ensuring compliance with applicable international, national, and local clinical laboratory regulations and other specific accreditations requirements.