PIPages
Labs

Rajiv McCoy

Johns Hopkins University, MD·Genetics

Small differences in DNA from person to person change how genes are switched on, how their messages are edited, and how proteins work. Some of those differences also affect survival and reproduction, the raw material of evolution.

Fields

Genetics

Ecology & Evolution

Computer Science

Topics

human genetic variation

population genetics

evolutionary genomics

Grants
1 known grant, through Jun 2029

What they work on

  1. Measure how gene expression and splicing vary within and between human populations, using RNA-seq data generated from diverse 1000 Genomes Project samples, and link the patterns to demographic history and natural selection.
  2. Pinpoint DNA variants that directly change gene expression or splicing, using the haplotype structure (variants inherited together) of matched DNA and RNA data from the same individuals.
  3. Map the diversity of RNA isoforms, the alternative versions of a gene's message, within and between human populations, using single-molecule long-read RNA sequencing of the same samples.
  4. Build a quantitative genetic model of the fitness tradeoff in meiotic recombination, which helps chromosomes separate correctly but also causes mutations, and test its predictions on preimplantation embryo data.
  5. Develop and test phylogenetic methods for clonal hematopoiesis, where a few blood stem cells dominate blood production, using simulations and published single-cell sequencing data from blood cells.

More about the research

Using humans as the model, this research builds computational and statistical tools to trace how DNA variation shapes traits in cells and whole organisms. It studies evolution at two levels: across human populations over many generations, and among cells inside a single body as it develops.

Why it matters

The work adds to basic understanding of how genetic variation drives differences in gene activity, reproduction and development. Data from diverse populations could make gene expression findings apply more broadly than results based mostly on European-ancestry samples. Modeling the costs and benefits of recombination could inform understanding of chromosome errors in early embryos. New methods for clonal hematopoiesis could clarify how blood stem cell populations change within a person.

Known grants

From NIH and NSF research grants. Labs often have other funding we can't see.

Function and fitness consequences of human genetic variation

NIH · Aug 2019 – Jun 2029

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Caitlin Smukowski Heil

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Build genome-wide recombination maps for multiple Saccharomyces uvarum populations using whole genome sequencing, and compare how double-strand breaks are repaired as crossovers versus non-crossover gene conversions.

The school

Johns Hopkins University: 100 labs on PI Pages, $4.1B a year on research, 622 research doctorates a year.

More about Johns Hopkins University

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