WGS & WES

Whole Genome Sequencing (WGS) analyzes the complete DNA sequence of an organism, including both coding and non-coding regions of the genome. In contrast, Whole Exome Sequencing (WES) focuses only on protein-coding regions (exons), which represent approximately 1–2% of the genome but contain the majority of known disease-causing mutations.
WGS provides a more comprehensive view of genomic variation, while WES offers a cost-effective approach for identifying clinically relevant variants associated with inherited disorders, rare diseases, and cancer.

RASA Life Science Informatics offers comprehensive WGS and WES bioinformatics services including:
Quality Control & Data Processing
Read Alignment & Mapping
Variant Calling
Variant Annotation
Clinical Variant Interpretation
Structural Variant Analysis
Copy Number Variation (CNV) Analysis
Rare Disease Genomics
Cancer Genomics
Pharmacogenomics
Precision Medicine Analytics
Biomarker Discovery
Our workflows support research, clinical genomics, and translational medicine projects.

Our analysis pipelines can identify a wide range of genomic alterations, including:
Single Nucleotide Polymorphisms (SNPs)
Single Nucleotide Variants (SNVs)
Insertions and Deletions (InDels)
Copy Number Variations (CNVs)
Structural Variants (SVs)
Gene Fusions
Mobile Element Insertions
Regulatory Variants
Loss-of-Function Variants
Rare Disease-Causing Mutations
The specific variants detected depend on sequencing depth, platform, and study design.

Yes. We perform comprehensive clinical variant interpretation using internationally recognized guidelines and databases. Variants are evaluated based on pathogenicity, population frequency, disease association, inheritance patterns, and published scientific evidence.
Our interpretation workflows support rare disease research, clinical genomics studies, cancer genomics projects, and precision medicine applications.

Yes. Variant interpretation follows the recommendations of the American College of Medical Genetics and Genomics (ACMG) whenever appropriate. Variants may be classified as:
Pathogenic
Likely Pathogenic
Variant of Uncertain Significance (VUS)
Likely Benign
Benign
This classification framework helps prioritize clinically relevant variants for downstream investigation.

Our annotation workflows integrate information from leading genomic and clinical databases, including:
ClinVar
OMIM
gnomAD
HGMD
Ensembl VEP
ANNOVAR
dbSNP
COSMIC
OncoKB
PharmGKB
These resources help improve variant prioritization and biological interpretation.

Yes. Whole Genome Sequencing and Whole Exome Sequencing are widely used to identify disease-causing mutations associated with inherited and rare genetic disorders. Our workflows support:
Trio Analysis
Family-Based Sequencing Studies
Mendelian Disease Analysis
Candidate Gene Prioritization
Phenotype-Driven Variant Interpretation

WGS and WES are commonly used in oncology research to identify:
Somatic Mutations
Driver Mutations
Tumor-Specific Variants
Actionable Biomarkers
Tumor Mutational Burden (TMB)
Mutational Signatures
These analyses support precision oncology and translational cancer research programs.

Yes. Because WGS covers the entire genome, it can identify variants located in non-coding regions, regulatory elements, structural variants, and complex genomic rearrangements that may not be captured by WES.
For comprehensive genomic characterization, WGS is often considered the most informative sequencing approach.

We commonly support:
FASTQ Files
BAM Files
CRAM Files
VCF Files
gVCF Files
Phenotype Data
Clinical Metadata
Our team can also accommodate custom project-specific formats.

Our workflows utilize industry-standard tools including:
Alignment & Processing
BWA-MEM
Bowtie2
SAMtools
Picard
Variant Calling
GATK
DeepVariant
FreeBayes
bcftools
Structural Variant Analysis
Manta
Delly
LUMPY
GRIDSS
Annotation & Interpretation
ANNOVAR
Ensembl VEP
ClinVar
OMIM
Workflow Infrastructure
Nextflow
Snakemake
Docker
AWS
Google Cloud

Typical project deliverables include:
Quality Control Reports
Variant Calling Reports
Annotated VCF Files
Candidate Variant Lists
Clinical Interpretation Reports
CNV Analysis Reports
Structural Variant Reports
Pathway Analysis Results
Publication-Ready Figures
Comprehensive Scientific Reports
Deliverables can be customized according to research objectives and regulatory requirements.

Yes. We routinely integrate genomic data with:
RNA-Seq
Single-Cell Omics
Spatial Transcriptomics
Epigenomics
Proteomics
Metabolomics
Clinical Data
Multi-omics integration provides a more comprehensive understanding of disease biology and therapeutic response.

While targeted sequencing panels focus on predefined genes, WGS provides an unbiased view of the entire genome. This enables the discovery of novel disease-associated variants, structural rearrangements, and regulatory mutations that may not be included in targeted panels.

RASA combines expertise in genomics, bioinformatics, clinical interpretation, and precision medicine to deliver high-quality WGS and WES analysis solutions. Our reproducible workflows, AI-assisted analytics, scalable cloud infrastructure, and publication-ready reporting help researchers and organizations maximize the value of genomic sequencing data.
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