The Scheinfeldt Lab


The Scheinfeldt Lab researches the ways in which human evolutionary history has shaped patterns of genetic and genomic variation across contemporary human populations. We have a particular interest in variation that impacts health and disease.

Research Interests

Characterizing neutral and non-neutral patterns of variation across the human genome

  • One component of our research involves the utilization of computational models to better predict patterns of neutral contemporary human variation. These theoretical neutral expectations can then be compared against empirical data to identify regions of the genome that deviate from these patterns and therefore may have been subjected to past and ongoing positive and negative selective pressures. This work contributes to a more complete picture of the genes and related phenotypes that have been affected by environmental changes due to migrations of modern humans within and outside of Africa and into novel environments such as high-altitude regions as well as Neolithic changes due to shifts in subsistence and population densities such as the genes involved in immune response to disease.

Addressing ascertainment bias in human genomics

  • We investigate the ways in which study design restricts the relevance of results across human populations. This work examines how persistent ascertainment biases in the current research literature impact genomic data collection, variant imputation, replication across studies, generalizability to marginalized communities and clinical translation of genomic and pharmacogenomic research results.

Leveraging biobanking resources for human genomics

  • We develop user friendly, web-based tools designed to facilitate the exploration of Repository biospecimens that have been characterized with large-scale sequencing technologies.
    • SNP Search
      • SNP Search is a dynamic variant-level query of whole genome sequencing data collected from the 1000 Genomes Project sample collection. Variant calls were generated using human reference genome build GRCh38. The SNP level and Gene level searches query data collected from 3202 individuals living around the world. Additional details pertaining to samples and sequence data collection and analysis can be found in the following publication: Byrska-Bishop et al., Cell ,185:3426-3440 (2022).
    • Gene Expression Search

About Dr. Laura Scheinfeldt

  • Associate Professor
  • Director, Repository Science
  • Principal Investigator, NINDS Human Genetics Resource Center
  • Principal Investigator, NHGRI Sample Repository for Human Genetic Research
  • lscheinfeldt@coriell.org

My research focuses on the ways in which human evolutionary history has shaped patterns of genetic, genomic and phenotypic variation across contemporary humans. One area of particular focus is how persistent ascertainment biases in the current research literature impact genomic data collection, variant imputation, replication across studies, generalizability to marginalized communities and clinical translation of genomic and pharmacogenomic research results.

Students

Oluseun Dario is a medical student at the Cooper Medical School of Rowan University.

Collaborators

Dara Kusic, PhD studies how genetic and non-genetic information can be used in the prevention or treatment of disease.

Neda Gharani, PhD studies genetics of complex disease and drug response.