ggd-genomics / packages / grch37-haploinsufficient-genes-clingen-v1

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CDS region genomic coordinates, along with complement coordinates, for a set of haploinsufficient genes from ClinGen's Dosage Sensitivity Map curated by Daniel MacArthur''s lab. The genes used are those that are haplosensitive and not triplosensitive, and are level 3 (the maximum level) dosage sensitive. Original work on this is part of the Cytogenomic Arrays Consortium. Paper at: 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5008023/'. Any genes in patch regions or non-reference scaffoldings are not included.

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