The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.

Publication Year: 2022

DOI:
10.1016/j.gim.2022.04.017

PMCID:
PMC7613247

PMID:
35507016

Journal Information

Full Title: Genet Med

Abbreviation: Genet Med

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
3/6
50.0% Transparent
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Evidence found in paper:

"Conflict of Interest: R.E.F. is an employee of SciBite Ltd, an Elsevier company. Her work towards this paper was performed when employed by Genomics England. The following authors are an employee for a commercial laboratory that offers clinical genetic testing: M.B.; A.J.C.; K.R.; J.T.. All other authors have nothing to disclose."

Evidence found in paper:

"Support for title page creation and format was provided by AuthorArranger, a tool developed at the National Cancer Institute. This study was supported by the National Human Genome Research Institute of the National Institutes of Health under award U24HG006834. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health or other affiliations. This work was supported by the Intramural Research Program at the National Library of Medicine. PanelApp Australia is supported by Australian Genomics (NHMRC Grants GNT1113531 and GNT2000001). This work was supported by Wellcome Trust [107469/Z/15/Z; 200990/A/16/Z], Medical Research Council (UK), British Heart Foundation [RE/18/4/34215], the NIHR Imperial College Biomedical Research Centre. We thank all PanelApp reviewers and those who have contributed feedback or gene lists to help in the development of PanelApp; individual panels show the names and affiliations of contributors. We thank all participants in the 100,000 Genomes Project. This research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health). The 100,000 Genomes Project is funded by the NIHR and NHSE. The Wellcome Trust, Cancer Research UK and the Medical Research Council have also funded research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the NHSE as part of their care and support. Open Targets is supported by Open Targets. The work performed by authors at EMBL-EBI for the TGMI project was supported by the Wellcome Trust [WT200990/Z/16/Z]. The work of the HGNC is supported by National Human Genome Research Institute (NHGRI) award U24HG003345 & Wellcome Trust grant 208349/Z/17/Z. For the purpose of open access, the authors have applied a CC BY public copyright licence to any Author Accepted Manuscript version arising from this submission."

Protocol Registration
Open Access
Paper is freely available to read
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Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025