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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, ...

Posted 3 months ago

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