20 January 2021 IMPORTANT NOTICE: A change will occur in the format of the following FTP download files: ClinGen_gene_curation_list_GRCh37.tsv ClinGen_gene_curation_list_GRCh38.tsv ClinGen_region_curation_list_GRCh37.tsv ClinGen_region_curation_list_GRCh38.tsv Each of these files have three PMID fields for Haploinsufficiency and three PMID fields for Triplosensitivity. With the change, each will now have six fields for Haploinsufficiency and six for Triplosensitivity. To avoid any parsing confusion, the new fields will be grouped with their corresponding existing fields. For example: [...] Haploinsufficiency PMID1 Haploinsufficiency PMID2 Haploinsufficiency PMID3 Haploinsufficiency PMID4 Haploinsufficiency PMID5 Haploinsufficiency PMID6 [...] Triplosensitivity PMID1 Triplosensitivity PMID2 Triplosensitivity PMID3 Triplosensitivity PMID4 Triplosensitivity PMID5 Triplosensitivity PMID6 [...] 1 February 2020 This site holds files produced by the Dosage Sensitivity Curation Working Group of the ClinGen Consortium (formerly the ISCA Evidence based review committee). The goal of this group is to curate regions of the genome with respect to their dosage sensitivity. More information about this effort can be found on these sites: https://dciw.clinicalgenome.org/ https://www.clinicalgenome.org/working-groups/dosage-sensitivity-curation/ The files in this directory contain data for genes and regions that have been through the review process. These files are updated daily. Files are available for genes and regions localized on both GRCh37 and GRCh38. tsv files: The tsv files have a header and contain all of the curation information found on the ClinGen Dosage Sensitivity Map web pages: ClinGen_gene_curation_list.tsv: tab separated file for gene curation ClinGen_region_curation_list.tsv: tab separated file for region curation BED files: BED files are available for gene curation. There are separate files for haploinsufficiency and triplosensitivity as the BED file only has one column for 'score'. Because the score column expects a number rather than text, the following scores have been converted to numbers: Dosage sensitivity unlikely: 40 Gene associated with autosomal recessive phenotype: 30 For more information on scoring: https://dciw.clinicalgenome.org/help.shtml ClinGen_haploinsufficiency_gene.bed: BED file with haploinsufficiency scores ClinGen_triplosensitivity_gene.bad: BED file with triplosensitivity scores ClinGen_recurrent_CNV_V1.1.aed - This file contains recurrent copy number variations (CNV) that have been, or are in the process of being, reviewed by the recurrent CNV ClinGen DSC Subgroup. This file is available in genome build hg19 and hg38 and can be opened in ChAS software. The orange bars represent each recurrent region. The black bars represent the segmental duplication clusters/breakpoints. ClinGen_recurrent_CNV_V1.1.bed - This file contains recurrent copy number variations (CNV) that have been, or are in the process of being, reviewed by the recurrent CNV ClinGen DSC Subgroup. This file is available in genome build hg19 and hg38 and can be opened in array analysis software that utilizes .bed files as well as the UCSC genome browser. The orange bars represent each recurrent region. The black bars represent the segmental duplication clusters/breakpoints.