The USIC Genome Lab Facility is a centralized advanced genomics and molecular diagnostics platform supporting clinical research, translational genomics, multi-omics studies, biomarker discovery and precision healthcare applications. The facility provides access to sequencing, expression profiling, cytogenetics, pharmacogenomics, LC-MS/MS-based applications and end-to-end bioinformatics support for researchers, clinicians, students and industry collaborators.
Vision
To develop as a centre of excellence in translational genomic medicine by integrating advanced genomics, multi-omics technologies and precision diagnostics to advance biomedical research, personalized healthcare and clinical innovation.
Mission
- Provide high-quality molecular and genomic diagnostic services using advanced sequencing, expression profiling and analytical platforms.
- Support biomarker discovery, disease genomics, microbiome research and therapeutic monitoring through integrated multi-omics approaches.
- Deliver reliable bioinformatics, biostatistics and data interpretation support for clinical and research applications.
- Promote interdisciplinary collaboration among clinicians, researchers, students and industry partners.
- Train students, researchers and healthcare professionals in contemporary genomic technologies, molecular diagnostics and data analysis.
Core Focus Areas
- Provide high-quality molecular and genomic diagnostic services using advanced sequencing, expression profiling and analytical platforms.
- Support biomarker discovery, disease genomics, microbiome research and therapeutic monitoring through integrated multi-omics approaches.
- Deliver reliable bioinformatics, biostatistics and data interpretation support for clinical and research applications.
- Promote interdisciplinary collaboration among clinicians, researchers, students and industry partners.
- Train students, researchers and healthcare professionals in contemporary genomic technologies, molecular diagnostics and data analysis.
Facility Governance and Scientific Support Team
The facility functions through a focused leadership, scientific and technical support structure. Faculty names are included where they contribute to governance, scientific planning, research support, training or domain-specific consultation.
| Name | Role / Designation | Facility-related expertise / contribution |
|---|---|---|
| Dr. Akila Prashant | Facility Head; Professor & Head, Department of Biochemistry; Convener, Department of Medical Genetics | Strategic leadership, translational genomics, rare genetic disorders, newborn screening and multi-omics research integration |
| Dr. Jyothi MN | Facility In-charge; Senior Research Associate, Department of Medical Genetics | Operational coordination, sample workflow, molecular biology, rare disorders, epigenetics and cancer biology support |
| Dr. Prince Jacob | Assistant Professor, Department of Medical Genetics | Monogenic diseases, skeletal dysplasia, exome sequencing, genome sequencing and NGS-based disease studies |
| Dr. Suvilesh K N | Associate Professor, Department of Medical Genetics | Translational cancer research, multi-omics, molecular genetics and research mentorship |
| Dr. Praveen Kumar K S | Assistant Professor, Department of Medical Genetics | Molecular genetics, genomics, medical genetics, prenatal diagnosis and variant-focused disease studies |
| Dr. Karthik Kanakoor | Assistant Professor, Department of Biochemistry | Biochemistry, medical education, training support and interdisciplinary academic coordination |
| Dr. Shobha C R | Assistant Professor, Department of Biochemistry | Biochemistry, research support, molecular and metabolic disease-related academic collaboration |
Core Capabilities
| Capability | Services / Applications |
|---|---|
| Sequencing and Genomics | Sanger sequencing, whole exome sequencing, whole transcriptome sequencing, 16S/metagenomic and targeted microbiome sequencing. |
| Gene Expression and Molecular Profiling | miRNA expression, TaqMan multiplex assays, low-frequency mutation detection, ctDNA profiling, biomarker analysis, SNP/CNV assessment and rare genetic disorder testing support. |
| Cytogenetics and Genomic Arrays | Karyotyping, fluorescence in situ hybridization, DNA microarray, SNP genotyping and comparative genomic hybridization for CNV analysis. |
| Pharmacogenomics and Therapeutic Monitoring | Variant-based drug response assessment, dose optimization support, LC-MS/MS applications, infectious disease management support and therapeutic drug screening. |
| Bioinformatics and Biostatistics | End-to-end data analysis, variant annotation, differential expression analysis, microbiome profiling, visualization and publication-ready outputs. |
Major Instruments Available
| Instrument | Model | Make | Applications |
|---|---|---|---|
| Automated Nucleic Acid Extraction Robot | Manta | Cambrian | Nucleic acid extraction from biological and clinical samples |
| SeqStudio Sequencer | SeqStudio | Thermo Fisher Scientific | Sanger sequencing for SNP/CNV analysis |
| Ion Torrent NGS Sequencer | GeneStudio S5 Plus | Thermo Fisher Scientific | Whole exome, transcriptome and microbiome sequencing |
| Ion Chef | Chef | Thermo Fisher Scientific | Automated NGS library preparation |
| Microarray | 3700 | Agilent | SNP genotyping and comparative genomic hybridization for CNV analysis |
| ddPCR | QX200 | Bio-Rad | ctDNA profiling, biomarker analysis, CNV and SNP expression studies |
| qPCR | QuantStudio 5 Dx | Thermo Fisher Scientific | miRNA expression, biomarker and gene expression profiling |
| ProFlex PCR | ProFlex | Thermo Fisher Scientific | Target amplification and NGS library preparation support |
| Triple Quad LC-MS/MS | Triple Quad 4500 | SCIEX | Therapeutic drug monitoring, infectious disease-related applications and drug dose optimization support |
| Fluorescence Microscope | Zeiss Axio Imager Z2 | Zeiss | Karyotyping and immunofluorescence imaging |
| Fragment Analyzer | FA5200 | Agilent | NGS library quality control |
Services Offered
Sequencing Services
- Sanger sequencing
- Whole exome sequencing
- Whole transcriptome sequencing
- Microbiome sequencing: 16S metagenomics and targeted V3/V4 sequencing
Gene Expression and Mutation Studies
- Low-frequency mutation identification
- ctDNA expression/profiling support
- Rare genetic disorder diagnostics support
- Biomarker and miRNA expression profiling
- TaqMan multiplex gene expression assays
Cytogenetics
- Karyotyping
- FISH
- DNA microarray
Pharmacogenomics and Drug Response
- Molecular docking support
- Lead molecule identification support
- Dose optimization support
- Infectious disease management support
- Identification of genetic variants associated with drug response
Bioinformatics, Biostatistics and Reporting Support
- Sanger, WES, RNA-seq and microbiome data analysis
- Microarray data processing and analysis
- Variant annotation, differential expression and pathway analysis
- Biostatistical analysis, visualization and hypothesis testing
- End-to-end support from raw data processing to publication-ready tables and figures
User Workflow
- Pre-submission discussion to confirm service feasibility, sample type, quantity, quality and expected output.
- Sample submission with request form, relevant clinical/research details and ethical/project approvals where applicable.
- Quality check and acceptance of samples or libraries before processing.
- Laboratory processing, sequencing/profiling or instrument-based analysis as per approved workflow.
- Bioinformatics, statistical analysis, data visualization and interpretation support, where requested.
- Delivery of data, analysis outputs or reports as applicable to the approved service scope.
Sample Submission
The facility accepts a range of biological and research samples, depending on the requested service and assay requirements. Users are advised to contact the facility before shipment to confirm quality, quantity, storage and transportation conditions.
- Whole blood
- Serum and plasma
- DNA and RNA samples
- Fresh, frozen or preserved tissue specimens
- Cell pellets and cultured cells
- Microbial isolates and environmental samples
- PCR products and purified amplicons
- Prepared NGS libraries
Quality, Data and Confidentiality
- SOP-guided workflows with defined pre-analytical, analytical and post-analytical checkpoints.
- Sample tracking and quality-control documentation at relevant stages of processing.
- Reproducible bioinformatics and statistical workflows for research and publication support.
- User data and sample-related information are handled confidentially and shared only with authorized users.
- Raw and processed data are stored on the facility server for 180 days without additional charges; longer storage may be requested in advance.
Internships, Academic Projects and Training
The facility supports structured short-term internships, academic research projects and hands-on training for eligible students and trainees from M.Sc., MBBS, MD and related biomedical disciplines.
- Short-term internships: 4-8 weeks
- Academic research projects: 3-6 months
- Mentor-guided training with continuous monitoring
- Exposure to molecular biology, genomics, cytogenetics, sequencing and analytical workflows
Collaborations
The facility welcomes collaborative research projects, funded studies, student dissertations, translational research proposals and industry-academic partnerships aligned with genomics, molecular diagnostics, biomarker discovery, pharmacogenomics, microbiome research and multi-omics applications.
Access, Booking and Contact
Users may book instruments and services through the i-STEM portal by registering as a user and selecting the USIC Genome Lab Facility page: https://www.istem.gov.in
For service feasibility, sample requirements, turnaround time and cost estimates, users should contact the facility directly before sample submission.
| Item | Details |
|---|---|
| Facility Head | Dr. Akila Prashant, Professor & Head, Department of Biochemistry; Convener, Department of Medical Genetics, JSS Medical College, JSS AHER, Mysuru |
| Facility In-charge | Dr. Jyothi MN, Senior Research Associate, Department of Medical Genetics, JSS Medical College and Hospital, Mysuru |
| Phone | 9743591469 |
| jyothimn@jssuni.edu.in; usic@jssuni.edu.in |
Frequently asked questions
The facility offers advanced genomics infrastructure, expert technical support, integrated bioinformatics and end-to-end research solutions from sample processing to interpretation and publication-ready outputs.
Researchers, faculty members, clinicians, genetic counsellors, industry professionals and graduate/postgraduate students from academic, healthcare, research and industry settings may access the facility.
Users may register and book the facility through the i-STEM portal. Direct contact with the facility is recommended before booking to confirm feasibility and sample requirements.
Requirements vary by assay. Detailed sample collection, storage, transportation and input requirements are available on request.
Samples must be shipped under appropriate storage and transport conditions based on sample type and requested service. The facility will provide assay-specific guidance before shipment.
Yes. The facility provides data processing, QC, variant annotation, differential expression analysis, microbiome profiling, pathway analysis, visualization and biostatistical testing.
Yes. The team supports generation of scientifically robust tables, figures and interpreted results suitable for manuscripts, grant applications and research reports.
Turnaround time depends on the service requested and sample readiness. For many services, an estimated turnaround time of 3-4 weeks after sample acceptance may be considered.
Users may contact the facility for service-specific cost estimates and official payment instructions. For public website display, bank account details are better shared only after service confirmation or through an official proforma invoice.
Data will be stored on the facility server for 180 days without additional charges. Users requiring longer storage should contact the facility in advance.
