We would like to thank Wagner, Çelik et al., 2023 for generating and making the data publicly available. We would also like to thank Jeltje van Baren and Jairo Navarro for the creation and release of these tracks.
--We are happy to announce the release of DECIPHER dosage sensitivity tracks for human assemblies, +We are happy to announce the release of dosage sensitivity tracks for human assemblies, GRCh38/hg38 and GRCh37/hg19, displaying a cross-disorder dosage sensitivity map of the human genome. The two tracks correspond to the probability of haploinsufficiency (pHaplo) and the probability of triplosensitivity (pTriplo).
Rare copy-number variants (rCNVs) include deletions and duplications that occur infrequently in the global human population and can confer substantial risk for disease. Collins et al aimed to quantify the properties of haploinsufficiency (i.e., deletion intolerance) and triplosensitivity (i.e., duplication intolerance) throughout the human genome by analyzing rCNVs from nearly one million individuals to construct a genome-wide catalog of dosage sensitivity across 54 disorders, which defined 163 dosage sensitive segments associated with at least one disorder. These segments were typically gene-dense and often harbored dominant dosage sensitive driver genes. An ensemble machine learning model was built to predict dosage sensitivity probabilities (pHaplo & pTriplo)