Sr Human Geneticist (Founder and Special Populations)

Tarrytown, NY, United States
Nov 25, 2020
Required Education
Position Type
Full time
We are seeking a talented geneticist to conduct analyses in founder and other unique populations, interpret genetic data in order to obtain a deeper understanding of human biology, bioinformatically support analysis and identification of novel targets, and seek indications for drug programs.

As a Sr. Human Geneticist, a typical day may include:
  • Cataloging and interpreting results of allelic architecture analyses in various founder and special populations to glean novel insights into human biology and develop follow-up strategies.
  • Interpreting results of genotype: phenotype association analyses from whole exome sequencing and genotyping studies
  • Working with Analytical Genetics and Therapeutic Area Genetics teams to validate potentially interesting findings in founder and other special populations by extending the analyses to other RGC study populations (ex. Geisinger DiscovEHR, UK Biobank).
  • Providing bioinformatics support for the Mendelian collaborations
  • Support Aging TFA to perform human genetics research on aging and longevity and related traits.
  • Surveying the literature and attend conferences to incorporate discoveries and findings from the broader genetics community into study opportunities and considerations internally.
  • Applying biological insights, internal and external data sets, published literature, and other resources to prioritize genetic discoveries for functional follow-up.
  • Working with Functional Modeling, Therapeutic Focus Area, and Early Clinical Development teams to nominate, design call-back studies, and functional experiments to follow-up on exciting hits.
  • Summarizing and communicating study findings to the Founder and Special Populations team, leadership, and external collaborators.
  • Identifying and engaging potential new external collaborators with access to well-phenotyped populations.

To be considered for this role, you must have a PhD or MD with 2+ years of experience with a strong background in human disease and/or applied population genetics; Some experience analyzing and interpreting whole exome sequencing and genotyping studies (ex. variant level QC, statistical association analysis, and interpretation of association signals in complex disease); Some experience with standard statistical approaches and tools (ex. regression, linear mixed models, PLINK, R) and some programming experience (ex. Linux, Python); Experience with molecular characterization and functional studies geared towards elucidating gene functions and the mechanistic basis for genetic associations is a plus.