Leveraging type 1 diabetes human genetic and genomic data in the T1D Knowledge Portal

Parul Kudtarkar; Maria C Costanzo; Ying Sun; Dongkeun Jang; Ryan Koesterer; Josyf C Mychaleckyj; Uma Nayak; Suna Onengut-Gumuscu; Stephen S Rich; Jason A Flannick; Kyle J Gaulton; Noël P Burtt

doi:10.1101/2023.02.03.526066

Leveraging type 1 diabetes human genetic and genomic data in the T1D Knowledge Portal

bioRxiv [Preprint]. 2023 Feb 5:2023.02.03.526066. doi: 10.1101/2023.02.03.526066.

Authors

Parul Kudtarkar¹, Maria C Costanzo^{2

3}, Ying Sun¹, Dongkeun Jang^{2

3}, Ryan Koesterer^{2

3}, Josyf C Mychaleckyj⁴, Uma Nayak⁴, Suna Onengut-Gumuscu⁴, Stephen S Rich⁴, Jason A Flannick^{2

3

5

6}, Kyle J Gaulton¹, Noël P Burtt^{2

3}

Affiliations

¹ Department of Pediatrics, University of California San Diego, La Jolla CA.
² Metabolism Program, The Broad Institute of Harvard and MIT, Cambridge MA.
³ Program in Medical and Population Genetics, The Broad Institute of Harvard and MIT, Cambridge MA.
⁴ Center for Public Health Genomics, University of Virginia, Charlottesville VA.
⁵ Division of Genetics and Genomics, Boston Children's Hospital, Boston MA.
⁶ Department of Pediatrics, Harvard Medical School, Boston MA.

Abstract

Translating genetic discoveries for type 1 diabetes (T1D) into mechanistic insight can reveal novel biology and therapeutic targets but remains a major challenge. We developed the T1D Knowledge Portal (T1DKP), a disease-specific resource of genetic and functional annotation data that enables users to develop hypotheses for T1D-based research and target discovery. The T1DKP can be used to query genes and genomic regions for genetic associations, identify epigenomic features, access results of bioinformatic analyses, and obtain expert-curated resources. The T1DKP is available at http://t1d.hugeamp.org .

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