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MorPhiC Consortium: towards functional characterization of all human genes.

Mazhar Adli1, Laralynne Przybyla2, Tony Burdett3

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Summary

The Molecular Phenotypes of Null Alleles in Cells (MorPhiC) Consortium will catalogue human gene functions by creating null alleles and analyzing cellular phenotypes. This initiative aims to build a comprehensive resource for understanding gene function across the entire human genome.

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Area of Science:

  • Genomics
  • Human Genetics
  • Cellular Biology

Background:

  • Functional genomics and cellular models have advanced genome understanding, but human gene functions remain incompletely characterized.
  • Current knowledge of gene function is biased towards specific gene classes, highlighting a significant gap in research.

Purpose of the Study:

  • To establish the Molecular Phenotypes of Null Alleles in Cells (MorPhiC) Consortium for a comprehensive catalogue of human gene functions.
  • To address the gap in understanding molecular functions of human genes by studying null alleles in vitro.

Main Methods:

  • Utilizing in vitro multicellular systems to generate null alleles for all human genes.
  • Employing scalable phenotypic readouts and focusing initially on 1,000 protein-coding genes.
  • Developing and refining methodologies for generating null alleles and assessing cellular phenotypes.

Main Results:

  • Creation of a catalogue of molecular and cellular phenotypes associated with null alleles.
  • Establishment of best practices for extending null allele analysis to all human protein-coding genes.
  • Generation of engineered cell lines, plasmids, phenotypic data, and computational tools.

Conclusions:

  • The MorPhiC Consortium will provide a valuable resource for the research community to deepen insights into human gene functions.
  • The project aims to systematically uncover the roles of all human genes through a standardized, large-scale approach.
  • Open access to generated resources will accelerate future research in human genetics and molecular biology.