Is there a database of haploinsufficiency scores or status for each gene?
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9 months ago
markrz504 • 0

Hi, I'd like to classify genes as haploinsufficient or haplosufficient (or how haploinsufficient, as a continuous score). Is there a reliable source that aggregates this information based on experimental evidence (or any single study that has done this)? I've found some studies that purport to categorize genes from some set of genes as haploinsufficient or -sufficient, but is there something resembling a consensus classification? What would be ideal of course would be something like what DepMap does for gene essentiality. Thanks.

haploinsufficiency • 517 views
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Not sure about a well-stablished dedicated databse for HI. However, Decipher database is using a sort of dosage-sensitivity scores, I used to use this score as a metric of HI.

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9 months ago
rbagnall ★ 1.7k

ClinGen Genome Dosage Map is manually curating genes and regions of the genome to review the evidence for haploinsufficiency and triplosensitivity, and then score each accordingly. They have completed ~1500 genes and genome regions so far, so perhaps one to watch.

The probability that a gene is constrained for loss of function variants (e.g. nonsense, splice) has been scored in gnomAD and is available for download

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Thanks, in ClinGen, is it explained anywhere what scores mean? I can't find it anywhere on the site.

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yes, here

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