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  Home > SERVICE > NGS Service Unit > Bioinformatics Service
Bioinformatics Service
Bioinformatics is essential for NGS data interpretation. The B.I. team at Celemics provides customized analysis services and solutions with years of know-how and experience.
※ Research Use Only. Not for human or animal therapeutic or diagnostic use.
  BIOINFORMATICS PIPELINE
 
 
1. Raw Read (FASTQ)
The raw fastq data is the initial(raw) data from sequencing runs and includes whole genome information.
2. Quality Filter
Performs data filtering to maximize data reliability.
3. Alignment
Aligns the filtered data to the reference genome using BWA program.
4. Post Alignment Process
Removes the PCR duplicates and calibrates the sequence quality score.
5. Variant Call
Targets and locates genetic mutations such as SNV and InDel while comparing to the reference genome.
6. Annotation
Flexibility in being able to acquire both genetic information (obtained from Refseq data of variation detected) and clinical information (e.g. OMIM, ClinVar, COSMIC).
7. Data Analysis Report
Analysis results include overall data interpretation and genetic mutations such as SNV, InDel(separate inquiry for CNV, Gene Rearrangement).
 
  TURNAROUND TIME
Please contact Celemics technical support team for any further questions or inquiries (E-mail: support@celemics.com).
 
  DELIVERABLES
Result
FASTQ, BAM / BAI (BAM Index), Annotated variant list
Delivery Method
FTP (<30GB), HDD (>30GB)
Shipping hard disk drive (HDD) can incur additional costs.
 
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