MyBioCaddie Aggregator Aggregated Data

ExAC Loss of Function Intolerant Gene List


From Analysis of protein-coding genetic variation in 60,706 humans Lek et al.: “ We have used this catalogue to calculate objective metrics of pathogenicity for sequence variants, and to identify genes subject to strong selection against various classes of mutation; identifying 3,230 genes with near-complete depletion of predicted protein-truncating variants, with 72% of these genes having no currently established human disease phenotype.”


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