ExomeSeq Analysis at Eurofins Genomics India represents the pinnacle of medical exome sequencing, offering unparalleled coverage and depth for gene analysis. Our ExomeSeq service delivers more than 97% coverage of 22,000 genes, with a mean read depth of 100X, ensuring that nearly all disease-associated genes are thoroughly examined. With up to 100% coverage (depth coverage ≥20X) of all exons, our ExomeSeq service doubles the gene coverage offered by many competitors, making it the most comprehensive exome sequencing solution available.

The human exome, encompassing the entire coding (exonic) region of the genome, comprises only 1-2% of the genome but contains approximately 85% of all known disease-causing variants. While traditional exome kits cover around 92% of the exome, our ExomeSeq service goes further, enabling clinicians and researchers to uncover previously unrecognized genetic causes of disease with greater precision.

Our ExomeSeq Analysis can be performed for individuals (Proband), Trios (patient and parents), and additional family members. This flexibility allows for a focused examination of disease-associated genes related to a patient’s phenotype, aiding in accurate diagnosis and research.

Workflow and Deliverables

1. Quality Check of Raw Reads:

• Raw reads undergo rigorous quality filtration and adapter trimming. Primer sequences, poly(A) tails, and reads from ribosomal DNA templates are removed, leaving high-quality data for further analysis.

2. Alignment Against Human Reference Genome:

• High-quality reads are aligned to the UCSC hg19 human reference genome using the bwa aligner. Coding exons and splice junctions of known protein-coding RefSeq genes are assessed for depth of coverage and data quality.

3. Variant Calling:

• Variants are identified using the GATK variant pipeline, focusing on clinically relevant regions of the exome.

4. Annotation:

• Clinically relevant mutations are annotated using a comprehensive set of databases, including EmVClass, ClinVar, OMIM, GWAS, HGMD, dbSNP, and COSMIC.

Deliverables

For Individual (Proband):

• Quality filtration of reads
• Alignment to the hg19 human reference genome
• Summary statistics of chromosome-wise coverage
• A complete list of mutations in Excel format, annotated with various databases (1000 Genomes, dbSNP, DBNSFP, HGMD, GWAS, COSMIC, ClinVar, EmVClass)
• Disease-related mutation list in Excel
• A comprehensive report with clinical relevance

For Family Trios:

• All deliverables for individuals, plus:
• Pedigree analysis for a detailed family genetic assessment
• A comprehensive report with clinical significance, tailored to family genetics

Researchers and clinicians get the most detailed and accurate insights into the genetic basis of diseases. Our service stands out for its extensive gene coverage, ensuring that even the most elusive genetic variants are identified. This level of detail is crucial for accurate diagnosis, personalized treatment plans, and groundbreaking research, making ExomeSeq an indispensable tool in modern genomics.