Whole Genome/Exome Sequencing and Genotyping

The CGI provides comprehensive whole genome sequencing (WGS) services to support basic, translational, and clinical research across a wide range of organisms and project scales. Leveraging state-of-the-art short- and long-read sequencing platforms, the core delivers high-quality, high-coverage genome data suitable for variant discovery, de novo assembly, population genomics, and comparative analyses. Services span the full workflow—from project consultation and experimental design through library preparation, sequencing, and primary data processing—ensuring rigor, reproducibility, and efficient turnaround. Expert staff with deep technical and bioinformatics expertise partner closely with investigators to tailor sequencing strategies to specific scientific goals, budgets, and timelines, enabling robust genome-wide insights and accelerating discovery.

Whole genome shotgun sequencing is a strategy in which genomic DNA is randomly fragmented into many small pieces, sequenced in parallel, and computationally reassembled to reconstruct the original genome. Rather than targeting specific loci or regions, shotgun WGS provides unbiased, genome-wide coverage, enabling comprehensive detection of single nucleotide variants (SNVs), small insertions and deletions (indels), structural variants, and copy number changes. Modern implementations use high-throughput short-read platforms for cost-effectiveness, high-depth sequencing and/or long-read technologies to span repetitive regions and improve de novo assembly and structural variant resolution. For studies focused solely on coding regions or specific gene panels, targeted approaches may be more efficient. However, when completeness, discovery potential, and future reanalysis are priorities, whole genome shotgun sequencing remains the most comprehensive sequencing strategy available.