VARIANT INTERPRETATION SCIENTIST

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Job description

Overview:

The Variant Interpretation Scientist will work as part of the New York Center for Rare Diseases (NYCRD) at Montefiore-Einstein. They will use their prior experience in interpretation of variants in the human genome to help solve undiagnosed patients with rare diseases in a research setting. They will be provided with both short-read and long-read DNA sequencing data, typically as trios, and peripheral blood leukocyte RNA sequencing from the affected patients. They will work with external commercial and academic partners to implement best practices while helping to design and develop innovative analytical approaches. They will work closely with the NYCRD Bioinformatics Pipeline Engineer to implement integrated workflows that facilitate variant discovery and interpretation. They will work with NYCRD colleagues on enhanced phenotyping, including using the output of natural language processing and the GenomeDiver software to generate and have clinicians curate human phenotype ontology terms describing the patient. The NYCRD serves patients whose genetic ancestries are typically other than White European, requiring that they bring expertise and insights into how to optimise interpretation of these understudied populations, including the use of pangenome references including those developed at the NYCRD. The position requires being on-site but with flexibility to build a hybrid model once the NYCRD infrastructure is developed.

Requirements

Ph.D. in genetics, genomics, molecular biology, or related discipline.

Extensive experience with massively-parallel sequencing methods and data analysis.

At least 2 years of relevant experience required.

Experience in genetic variant interpretation for rare diseases.

Experience with long-read sequencing data analysis a major strength.

Basic competency in molecular biology methods and data analysis.

Basic competency with the use of Human Phenotype Ontology (HPO) terms in genomic diagnostics.

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