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Human and mouse essentiality screens as a resource for disease gene discovery.
Nat Commun
January 2020
Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK.
The identification of causal variants in sequencing studies remains a considerable challenge that can be partially addressed by new gene-specific knowledge. Here, we integrate measures of how essential a gene is to supporting life, as inferred from viability and phenotyping screens performed on knockout mice by the International Mouse Phenotyping Consortium and essentiality screens carried out on human cell lines. We propose a cross-species gene classification across the Full Spectrum of Intolerance to Loss-of-function (FUSIL) and demonstrate that genes in five mutually exclusive FUSIL categories have differing biological properties.
View Article and Find Full Text PDFErratum: Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts.
Commun Biol
March 2019
Department of Ophthalmology & Vision Science, School of Medicine, U.C. Davis, Sacramento, CA, 95817, USA.
Article Synopsis
- The text refers to a correction made to a previously published article with the DOI: 10.1038/s42003-018-0226-0.
- The correction is likely important for ensuring the accuracy and integrity of the research findings presented in the original article.
- Readers are encouraged to check the corrected version for updated information that may affect the conclusions or interpretations of the study.
Identification of genes required for eye development by high-throughput screening of mouse knockouts.
Commun Biol
December 2018
Department of Ophthalmology & Vision Science, School of Medicine, U.C. Davis, Sacramento, CA, 95817, USA.
Article Synopsis
- Advances in next generation sequencing have made it easier to study genetics, but understanding genetic causes of eye diseases is still tough due to cost and limited access to human genetic data.
- The International Mouse Phenotyping Consortium conducted a study evaluating 4,364 genes and found that 347 of them affect eye traits, with 75% being previously unknown in eye disease research.
- This significant increase in known genes related to eye conditions could have future implications for understanding eye development and diseases in humans.
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