A new open access database that categorises the genes essential for supporting life has been published – and it could be used to identify mutations for rare childhood diseases, developers say.
Researchers at EMBL’s European Bioinformatics Institute (EMBL-EBI) and Queen Mary University of London have completed the resource and details are published in Nature Communications.
They say it will further medical scientists’ understanding of rare disease genes because it provides an open access resource that can be used to identify high-quality candidates for rare disease mutations.
The study compares knockout mice viability and phenotyping data from the International Mouse Phenotyping Consortium (IMPC) with human cell lines provided by the Broad Institute’s Project Achilles to create categories indicating how crucial a gene is to producing viable life.
The scientists also compared their data with unsolved cases of genetic disorders identified in the 100,000 Genomes Project and the Deciphering Developmental Disorders (DDD) datasets to identify new mutations likely responsible for rare childhood diseases.
Violeta Muñoz-Fuentes, biologist, Mouse Informatics at EMBL-EBI, said: “In this study we show that gene essentiality is more of a spectrum ranging from cellular lethal, developmental lethal, sub-viable, viable with a visible phenotype and viable without a visible phenotype."
The scientists define these categories for 3819 genes.
Pilar Cacheiro, research fellow at Queen Mary University of London, said: “This study combines multiple sources of data from large scale projects to identify new candidate genes that, when mutated, are likely to have a causal relationship with rare human disorders. Nearly 6% of the population are affected by these diseases during their lives.”
CACHEIRO P et al. Human and mouse essentiality screens as a resource for disease gene discovery. Nature Communications 31 January 2020; doi: 10.1038/s41467-020-14284-2
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