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Page 1
A community approach to the cancer-variant-interpretation bottleneck.
Krysiak K, Danos AM, Kiwala S, McMichael JF, Coffman AC, Barnell EK, Sheta L, Saliba J, Grisdale CJ, Kujan L, Pema S, Lever J, Spies NC, Chiorean A, Rieke DT, Clark KA, Jani P, Takahashi H, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Lamping M, Marr AR, Li BV, Lin WH, Terraf P, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith OL, Griffith M. Krysiak K, et al. Among authors: sheta l. Nat Cancer. 2022 May;3(5):522-525. doi: 10.1038/s43018-022-00379-w. Nat Cancer. 2022. PMID: 35624339 Free PMC article.
Standard operating procedure for curation and clinical interpretation of variants in cancer.
Danos AM, Krysiak K, Barnell EK, Coffman AC, McMichael JF, Kiwala S, Spies NC, Sheta LM, Pema SP, Kujan L, Clark KA, Wollam AZ, Rao S, Ritter DI, Sonkin D, Raca G, Lin WH, Grisdale CJ, Kim RH, Wagner AH, Madhavan S, Griffith M, Griffith OL. Danos AM, et al. Among authors: sheta lm. Genome Med. 2019 Nov 29;11(1):76. doi: 10.1186/s13073-019-0687-x. Genome Med. 2019. PMID: 31779674 Free PMC article. Review.
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Chiorean A, Farncombe KM, Delong S, Andric V, Ansar S, Chan C, Clark K, Danos AM, Gao Y, Giles RH, Goldenberg A, Jani P, Krysiak K, Kujan L, Macpherson S, Maher ER, McCoy LG, Salama Y, Saliba J, Sheta L, Griffith M, Griffith OL, Erdman L, Ramani A, Kim RH. Chiorean A, et al. Among authors: sheta l. Hum Mutat. 2022 Sep;43(9):1268-1285. doi: 10.1002/humu.24392. Epub 2022 May 10. Hum Mutat. 2022. PMID: 35475554 Free PMC article.
Standard operating procedure for somatic variant refinement of sequencing data with paired tumor and normal samples.
Barnell EK, Ronning P, Campbell KM, Krysiak K, Ainscough BJ, Sheta LM, Pema SP, Schmidt AD, Richters M, Cotto KC, Danos AM, Ramirez C, Skidmore ZL, Spies NC, Hundal J, Sediqzad MS, Kunisaki J, Gomez F, Trani L, Matlock M, Wagner AH, Swamidass SJ, Griffith M, Griffith OL. Barnell EK, et al. Among authors: sheta lm. Genet Med. 2019 Apr;21(4):972-981. doi: 10.1038/s41436-018-0278-z. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287923 Free PMC article.
Open-Sourced CIViC Annotation Pipeline to Identify and Annotate Clinically Relevant Variants Using Single-Molecule Molecular Inversion Probes.
Barnell EK, Waalkes A, Mosior MC, Penewit K, Cotto KC, Danos AM, Sheta LM, Campbell KM, Krysiak K, Rieke D, Spies NC, Skidmore ZL, Pritchard CC, Fehniger TA, Uppaluri R, Govindan R, Griffith M, Salipante SJ, Griffith OL. Barnell EK, et al. Among authors: sheta lm. JCO Clin Cancer Inform. 2019 Oct;3:1-12. doi: 10.1200/CCI.19.00077. JCO Clin Cancer Inform. 2019. PMID: 31618044 Free PMC article.
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase.
Krysiak K, Danos AM, Saliba J, McMichael JF, Coffman AC, Kiwala S, Barnell EK, Sheta L, Grisdale CJ, Kujan L, Pema S, Lever J, Ridd S, Spies NC, Andric V, Chiorean A, Rieke DT, Clark KA, Reisle C, Venigalla AC, Evans M, Jani P, Takahashi H, Suda A, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Kesserwan C, Lamping M, Shen H, Marr AR, Hoang MH, Singhal K, Khanfar M, Li BV, Lin WH, Terraf P, Corson LB, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, King I, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith M, Griffith OL. Krysiak K, et al. Among authors: sheta l. Nucleic Acids Res. 2023 Jan 6;51(D1):D1230-D1241. doi: 10.1093/nar/gkac979. Nucleic Acids Res. 2023. PMID: 36373660 Free PMC article.