de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project.

Authors:
Ng JK; Vats P; Fritz-Waters E; Sarkar S; Sams EI and 12 more

Journal:
Hum Mutat

Publication Year: 2022

DOI:
10.1002/humu.24455

PMCID:
PMC9771978

PMID:
36054329

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

Transparency Score
5/6
83.3% Transparent
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Evidence found in paper:

"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."

Evidence found in paper:

"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 ."

Evidence found in paper:

"CONFLICTS OF INTEREST Pankaj Vats, Marc A. West, George Vacek, and Timothy T. Harkins are full time employees of NVIDIA."

Evidence found in paper:

"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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Open Access
Paper is freely available to read
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Last Updated: Aug 05, 2025