20 Aug
|
SKAN Research Trust
|
Bengaluru
20 Aug
SKAN Research Trust
Bengaluru
>
Research Associate Genomics
Research Area Parkinson s disease (PD) is a clinically and biologically heterogeneous neurodegenerative disorder affecting the central nervous system. It is currently the second most common neurodegenerative disease globally and has the fastest growing prevalence and disability burden among neurological disorders. Early-Onset Parkinson s Disease (EOPD), defined as disease onset between 21 and 50 years of age, represents a clinically distinct yet understudied subgroup of PD. Compared with Late-Onset Parkinson s Disease (LOPD; onset 51 years), EOPD patients frequently exhibit more severe non-motor manifestations. Genetic contributions play a major role in EOPD, particularly in familial and juvenile forms. Variants in genes such as PINK1, PRKN, DJ-1, SNCA, and LRRK2 have been implicated. The current project aims to perform comprehensive genomic and epigenomic profiling using technologies such as Whole Genome Sequencing, Whole Exome Sequencing, methylome analysis and long-read sequencing.
1. Key Responsibilities: DNA Extraction and Genomics Workflows
- DNA extraction from human tissues and biological samples such as PBMCs and buccal smears
- DNA/RNA quality assessment and quantification Experience handling Qubit, Tapestation etc
- Library preparation for:
- Whole Genome Sequencing (WGS)
- Whole Exome Sequencing (WES)
- Methylome sequencing
- Long-read sequencing using Oxford Nanopore platforms
- Sequencing quality control and troubleshooting
- Independent operation of Illumina NextSeq and NovaSeq sequencing systems
- Sample tracking, documentation, and laboratory record maintenance
2. Additional Desired Requirements
- Familiarity with Automated liquid handling systems such as Firefly
- Background in data science and running analysis pipelines
- Alignment and mapping of sequencing reads
- Variant calling, annotation, and interpretation
- Polygenic Risk score analysis
- Analysis of genomic and epigenomic datasets
- Experience of performin
📌 Research Associate Genomics (Bengaluru)
🏢 SKAN Research Trust
📍 Bengaluru