Public platform with 39,472 exome control samples enables association studies without genotype sharing.
Journal Information
Full Title: Nat Genet
Abbreviation: Nat Genet
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
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"it is available through dbgap ( phs000822 v1 p1 'case study.; the breast cancer cohort is available at dbgap through phs000822 v1 p1 .; the tcga cohort is available at dbgap through phs000178 v11 p8 ."
"code availability source code for svdfunctions30 is available at https://github com/alexloboda/svdfunctions ."
"Competing interests M.J.D. is a founder of Maze Therapeutics. All other authors declare no competing interests."
"The authors thank A. Sergushichev (ITMO University/Washington University in St. Louis) for helpful discussions; C. Stevens and N. Gupta (Broad Institute) for their help with exome dataset access; S. Ripatti and A. Palotie (FIMM) and S. Kathiresan and J. Florez (MGH) for contributing samples to the SCoRe platform. M.A. and A.A.L. thank M. Artemova (Nationwide Children’s Hospital) for her support of the project. M.A. thanks A. Shaw (Genentech) for inspiration to pursue research in human genetics and providing the data for the FSGS case study. The project was supported by NIH funding to M.J.D. grant U01MH111660. M.A. was in part supported by Nationwide Foundation Pediatric Innovation Fund. A.A.L. was funded by the Ministry of Higher Education and Science of Russia (#075-15-2022-301)."
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Last Updated: Aug 05, 2025