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ggd-genomics / packages / grch38-haploinsufficient-genes-dang-v1

CDS region genomic coordinates, along with complement coordinates, for a set of haploinsufficient genes from Dang et al. (2008): https://www.nature.com/articles/ejhg2008111. They used text-searching and database-mining on Pubmed and OMIM to extract an annotated list of human haploinsufficient genes, their associated diseases, and functions. Any genes in patch regions or non-reference scaffoldings are not included.


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