C3G has extensive experience in identifying genetic variants through both Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES), providing comprehensive analyses to help researchers understand the genetic underpinnings of various conditions. This service involves several key steps:

• Processing raw sequencing data to generate variant calls following GATK best practices, ensuring high-quality and reliable results.
• Detecting structural variants (SVs) and copy number variants (CNVs), providing insights into large-scale genomic alterations that may be involved in disease or traits.
• Variant annotation and filtering tailored to specific project needs, such as de novo mutations, compound heterozygosity in trios, and other forms of genetic prioritization, using frameworks like GEMINI  for advanced analyses.

C3G’s variant calling and analysis capabilities are complemented by their strong publication track record, with notable contributions to studies on rare variants linked to diseases such as early-onset Alzheimer’s and epilepsy.

• Example Publication: Nicolas, G., Charbonnier, C., Wallon, D. et al. SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease. Mol Psychiatry 21, 831–836 (2016). Access Paper.
• Example Publication: Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, et al. (2018). Global characterization of copy number variants in epilepsy patients from whole-genome sequencing. PLoS Genet 14(4): e1007285. Access Paper.

C3G's expertise in WGS and WES ensures that researchers can confidently interpret complex genetic data, from variant identification to prioritization, enhancing the understanding of genetic diseases and traits.