Albert Einstein College Of Medicine-posted about 1 year ago
$120,000 - $120,000/Yr
Full-time • Senior
Professional, Scientific, and Technical Services

The Variant Interpretation Scientist will be a key member of the New York Center for Rare Diseases (NYCRD) at Montefiore-Einstein, focusing on the interpretation of genetic variants to assist in diagnosing rare diseases. This role involves analyzing DNA sequencing data and collaborating with various partners to enhance variant discovery and interpretation, particularly for diverse genetic ancestries.

  • Interpret variants in the human genome to assist undiagnosed patients with rare diseases.
  • Analyze short-read and long-read DNA sequencing data, typically from trios.
  • Collaborate with external commercial and academic partners to implement best practices.
  • Design and develop innovative analytical approaches for variant interpretation.
  • Work closely with the NYCRD Bioinformatics Pipeline Engineer to implement integrated workflows.
  • Enhance phenotyping using natural language processing and GenomeDiver software.
  • Curate human phenotype ontology terms in collaboration with clinicians.
  • 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 in genetic variant interpretation for rare diseases.
  • Experience with long-read sequencing data analysis is 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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