de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project.
Journal Information
Full Title: Hum Mutat
Abbreviation: Hum Mutat
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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"these included sra data srr944138 from 2012 and srr952827 from 2013 mcdonnell genome institute data gerald_hfkwmdsxx and h_ij-na12878 both from 2018 and the high-coverage data from 2020."
"hat v1 0 was used for analyses in this paper and is available at https://github com/tnturnerlab/gpu_accelerated_de_novo_workflow .; we also developed a fully open-source cpu-based version of the code that does not require the nvidia parabricks license tortoise and it is available at https://github com/tnturnerlab/tortoise ."
"CONFLICTS OF INTEREST Pankaj Vats, Marc A. West, George Vacek, and Timothy T. Harkins are full time employees of NVIDIA."
"We are grateful to all of the families at the participating SSC sites, as well as the principal investigators (A. B., R. B., J. C., E. C., E. F., D. G., R. G.‐K., E. H., D. G., A. K., 25D. L. C., L. C., M. D., M. R., M. J., M. O., O. K., P. B., P. J., P. C., S. M., S. W., S. J., S. C., W. Z. W., and E. W.). We appreciate obtaining access to phenotypic and genetic data for the monozygotic twin pair on SFARI Base. This study was supported by grants from the National Institutes of Health (R00MH117165 to T. N. T., R01MH126933 to T. N. T.) and the Simons Foundation (Award #734069 to T.N.T.). Approved researchers can obtain the SSC population data set described in this study (https://www.sfari.org/resource/simons-simplex-collection/), accession SFARI_DS361901, by applying at https://base.sfari.org."
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Last Updated: Aug 05, 2025