Human Genome Resequencing
Nucleome offers highly precise, inclusive human whole-genome sequencing services, giving researchers, Physicians and patients the clearest picture of the genome using the advanced genome sequencers available at Nucleome’s human genomics lab called DrSeq Labs .
For whole genome sequencing, we extract DNA from blood or tissue and then determine the identity of the 3 billion nucleotides that compose the human genome. Today, most genetic testing focuses on one or a few genes, rather than the entire genome. However, with the availability of human genome sequencing service in India at Nucleome Informatics, now more individuals are pursuing this option. Physicians can look at an entire genome to see how specific treatments for a disease will be affected by an individual’s unique genome. For example, the physician may opt to look at genes involved in drug metabolism when deciding dosage. In the future, whole genome sequencing may enable everyone to develop a personalized treatment plan.
Advantages of Whole Genome Sequencing
- Creating personalized plans to treat disease may be possible based not only on the mutant genes causing a disease, but also other genes in the patient’s genome.
- Genotyping cancer cells and understanding what genes are misregulated allows physicians to select the best chemotherapy and potentially expose the patient to less toxic treatment since the therapy is tailored.
- Previously unknown genes may be identified as contributing to a disease state. Traditional genetic testing looks only at the common “troublemaker” genes.
- Lifestyle or environmental changes that can mediate the effects of genetic predisposition may be identified and then moderated.
Sequencing Strategy
- 350 bp insertion DNA library.
- Illumina HiSeq Platform, Paired-end150 bp.
Sample Requirements
- DNA amount quantified by Qubit 3.0
- For fresh sample: ≥2.0 μg (for two libraries prep); minimum: 500 ng
- For FFPE sample: ≥3.0 μg (for two libraries prep); minimum:1μg
- DNA concentration: ≥20 ng/μL
- Total volume: ≥10 μL
- Purity: OD260/280= 1.8-2.0 without degradation or RNA contamination
Turnaround Time
Within 45 days from sample verification Additional 15 days for standard bioinformatics analysisRecommended Sequencing Depth
- For normal sample: effective sequencing depth 30X
- For tumor sample: effective sequencing depth 50X
Bioinformatic Analysis
- Data quality control: filtering reads containing adapter or with low quality
- Alignment with reference genome, statistics of sequencing depth and coverage
- SNP/InDel/SV/CNV calling, annotation and statistics
- Somatic SNP/InDel/SV/CNV calling, annotation and statistics (paired tumor samples)









