Data Scientist-Health care Molecular Connections

3.0 - 7.0 years

0 Lacs

karnataka

On-site

As a Variant Annotation Curator, your primary responsibility will be to curate, harmonize, and maintain high-quality variant annotation datasets from a variety of public and proprietary sources such as ClinVar, ClinGen, HGDM, CADD, refSeq, REVEL gnomAD, dbSNP, and COSMIC. You will be tasked with developing and implementing pipelines to ensure the harmonization of variant annotations across different formats, nomenclatures, and reference genomes. Standardizing variant representations using HGVS, VCF, and other relevant formats will also be a key aspect of your role. Collaboration with the technical operations team to deliver curated data into customer systems will be essential. Additionally, you will be responsible for performing quality control and validation of variant annotations to uphold data integrity standards. Staying updated with the latest developments in variant annotation standards and tools, as well as understanding differences between annotation database versions, will be crucial for this position. Documenting curation processes and contributing to documentation will also be part of your duties. To qualify for this role, you should have a Master's or Ph.D. in Bioinformatics, Computational Biology, Genomics, or a related field. Strong experience with variant annotation tools and databases is required. Proficiency in ETL/workflow tools like Airflow, Nextflow, and scripting languages such as Python or R is essential. Experience with version control systems like Git, familiarity with genomic data formats (VCF, BED, GFF), and reference genome builds (GRCh37/38) is necessary. Previous experience with data harmonization and integration across heterogeneous sources, knowledge of ontologies, and controlled vocabularies (e.g., ClinVar terms, Sequence Ontology) are also important qualifications. Having excellent problem-solving skills and attention to detail is crucial for success in this role. Additionally, experience with SQL (Postgres), familiarity with Kubernetes architecture, and cloud services like AWS would be advantageous in fulfilling your responsibilities as a Variant Annotation Curator.,

Posted 1 month ago

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