CD Genomics is highlighting its whole exome sequencing service for researchers investigating genetic variation across protein-coding regions. By combining exome capture, high-throughput sequencing, coverage quality control and bioinformatics analysis, the service supports rare disease research, cohort studies, gene discovery, oncology research and agricultural genomics.
Whole exome sequencing is a targeted sequencing approach that enriches protein-coding regions of the genome before sequencing. Compared with whole-genome sequencing, WES focuses on a smaller genomic scope and generally produces a more manageable volume of data. Compared with a targeted gene panel, it supports broader discovery when researchers do not want to limit analysis to a predefined list of genes.
CD Genomics provides coding-region variant discovery through exome capture using hybridization-based capture and high-throughput sequencing. DNA is fragmented, prepared with capture-compatible library components and enriched using probes designed for exonic regions. Following sequencing, reads are aligned to a reference genome and processed for coverage assessment, variant calling and annotation.
The service can support analysis of single-nucleotide variants and small insertions or deletions in coding regions. Copy-number variation analysis may also be available as a project-specific add-on, depending on sample quality, capture design, sequencing performance and analytical requirements. Variant interpretation should consider coverage, allele balance, population frequency, predicted functional effect, inheritance model and any independent validation needed for the research question.
Whole exome sequencing may be useful for studies that require broader coding-region discovery across multiple samples. Applications can include rare disease and inherited-trait research, tumor and cancer biology studies, comparative genomics, agricultural research and animal or plant exome projects. Family-based and cohort-level analyses can help researchers compare shared, private or potentially relevant variants across related or stratified samples.
Quality control is an important part of WES study design. CD Genomics describes reporting metrics such as on-target performance, duplication, coverage distribution and the proportion of target bases meeting selected coverage thresholds. These measurements help researchers evaluate data usability and identify regions that may require caution during downstream interpretation.
Bioinformatics workflows may include raw-read quality control, alignment, exome coverage analysis, variant calling, variant annotation and summary reporting. Optional services can include joint cohort analysis, family-based analysis, CNV inference, custom filtering rules and hypothesis-driven variant prioritization.
Typical deliverables may include FASTQ files, aligned BAM or CRAM files, VCF variant calls, annotated variant tables, capture and coverage summaries, quality-control metrics and a project report. CD Genomics also provides integrated sequencing and bioinformatics support for research teams coordinating exome data with broader genomics workflows.
About CD Genomics:
CD Genomics provides genomics sequencing, genotyping and bioinformatics services for pharmaceutical, biotechnology, academic and research customers. Its capabilities cover targeted sequencing, whole-genome and exome studies, transcriptomics, microbiome analysis, single-cell sequencing and related genomic data analysis.
Media Contact:
Contact: Dianna Gellar
Email: contact@cd-genomics.com
Phone: +1 631 259 7705
Website: cd-genomics.com
Address: Shirley, NY, USA
For Research Use Only. Not for use in clinical diagnosis, treatment or individual health assessment.