Christopher Douville

Research Associate

20132020

Research output per year

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Research Output

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2020

Assessing aneuploidy with repetitive element sequencing

Douville, C., Cohen, J. D., Ptak, J., Popoli, M., Schaefer, J., Silliman, N., Dobbyn, L., Schoen, R. E., Tie, J., Gibbs, P., Goggins, M., Wolfgang, C. L., Wang, T. L., Shih, I. M., Karchin, R., Lennon, A. M., Hruban, R. H., Tomasetti, C., Bettegowda, C., Kinzler, K. W. & 2 others, Papadopoulos, N. & Vogelstein, B., Mar 3 2020, In : Proceedings of the National Academy of Sciences of the United States of America. 117, 9, p. 4858-4863 6 p.

Research output: Contribution to journalArticle

2019

A multimodality test to guide the management of patients with a pancreatic cyst

Springer, S., Masica, D. L., Molin, M. D., Douville, C., Thoburn, C. J., Afsari, B., Li, L., Cohen, J. D., Thompson, E., Allen, P. J., Klimstra, D. S., Schattner, M. A., Max Schmidt, C., Yip-Schneider, M., Simpson, R. E., Castillo, C. F. D., Mino-Kenudson, M., Brugge, W., Brand, R. E., Singhi, A. D. & 40 others, Scarpa, A., Lawlor, R., Salvia, R., Zamboni, G., Hong, S. M., Hwang, D. W., Jang, J. Y., Kwon, W., Swan, N., Geoghegan, J., Falconi, M., Crippa, S., Doglioni, C., Paulino, J., Schulick, R. D., Edil, B. H., Park, W., Yachida, S., Hijioka, S., Van Hooft, J., He, J., Weiss, M. J., Burkhart, R., Makary, M., Canto, M. I., Goggins, M. G., Ptak, J., Dobbyn, L., Schaefer, J., Sillman, N., Popoli, M., Klein, A. P., Tomasetti, C., Karchin, R., Papadopoulos, N., Kinzler, K. W., Vogelstein, B., Wolfgang, C. L., Hruban, R. H. & Lennon, A. M., Jul 17 2019, In : Science translational medicine. 11, 501, eaav4772.

Research output: Contribution to journalArticle

2018

Detection and localization of surgically resectable cancers with a multi-analyte blood test

Cohen, J. D., Li, L., Wang, Y., Thoburn, C., Afsari, B., Danilova, L. V., Douville, C., Javed, A. A., Wong, F., Mattox, A., Hruban, R. H., Wolfgang, C., Goggins, M. S., Molin, M. D., Wang, T-L., Roden, R. S., Klein, A., Ptak, J., Dobbyn, L., Schaefer, J. & 22 others, Silliman, N., Popoli, M., Vogelstein, J. T., Browne, J. D., Schoen, R. E., Brand, R. E., Tie, J., Gibbs, P., Wong, H. L., Mansfield, A. S., Jen, J., Hanash, S. M., Falconi, M., Allen, P. J., Zhou, S., Bettegowda, C., Diaz, L. A., Tomasetti, C., Kinzler, K. W., Vogelstein, B., O'Broin-Lennon, A. M. & Papadopoulos, N., Feb 23 2018, In : Science. 359, 6378, p. 926-930 5 p.

Research output: Contribution to journalArticle

Evaluation of liquid from the Papanicolaou test and other liquid biopsies for the detection of endometrial and ovarian cancers

Wang, Y., Li, L., Douville, C., Cohen, J. D., Yen, T. T., Kinde, I., Sundfelt, K., Kjær, S. K., Hruban, R. H., Shih, I. M., Wang, T. L., Kurman, R. J., Springer, S., Ptak, J., Popoli, M., Schaefer, J., Silliman, N., Dobbyn, L., Tanner, E. J., Angarita, A. & 17 others, Lycke, M., Jochumsen, K., Afsari, B., Danilova, L., Levine, D. A., Jardon, K., Zeng, X., Arseneau, J., Fu, L., Diaz, L. A., Karchin, R., Tomasetti, C., Kinzler, K. W., Vogelstein, B., Fader, A. N., Gilbert, L. & Papadopoulos, N., Mar 21 2018, In : Science translational medicine. 10, 433, 8793.

Research output: Contribution to journalArticle

Integration of genetic and metabolic features related to sialic acid metabolism distinguishes human breast cell subtypes

Saeui, C. T., Nairn, A. V., Galizzi, M., Douville, C., Gowda, P., Park, M., Dharmarha, V., Shah, S. R., Clarke, A., Austin, M., Moremen, K. W. & Yarema, K. J., Jan 1 2018, In : PLoS One. 13, 5, p. e0195812

Research output: Contribution to journalArticle

Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy

Springer, S. U., Chen, C. H., Del Carmen Rodriguez Pena, M., Li, L., Douville, C., Wang, Y., Cohen, J. D., Taheri, D., Silliman, N., Schaefer, J., Ptak, J., Dobbyn, L., Papoli, M., Kinde, I., Afsari, B., Tregnago, A. C., Bezerra, S. M., VandenBussche, C., Fujita, K., Ertoy, D. & 20 others, Cunha, I. W., Yu, L., Bivalacqua, T., Grollman, A. P., Diaz, L. A., Karchin, R., Danilova, L. V., Huang, C. Y., Shun, C. T., Turesky, R. J., Yun, B. H., Rosenquist, T. A., Pu, Y. S., Hruban, R. H., Tomasetti, C., Papadopoulos, N., Kinzler, K. W., Vogelstein, B., Dickman, K. G. & Netto, G. J., Mar 20 2018, In : eLife. 7, e32143.

Research output: Contribution to journalArticle

2017

CRAVAT 4: Cancer-related analysis of variants toolkit

Masica, D. L., Douville, C., Tokheim, C., Bhattacharya, R., Kim, R. G., Moad, K., Ryan, M. C. & Karchin, R., Nov 1 2017, In : Cancer Research. 77, 21, p. e35-e38

Research output: Contribution to journalArticle

Open Access

Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges

Cai, B., Li, B., Kiga, N., Thusberg, J., Bergquist, T., Chen, Y. C., Niknafs, N., Carter, H., Tokheim, C., Beleva-Guthrie, V., Douville, C., Bhattacharya, R., Yeo, H. T. G., Fan, J., Sengupta, S., Kim, D., Cline, M., Turner, T., Diekhans, M., Zaucha, J. & 20 others, Pal, L. R., Cao, C., Yu, C. H., Yin, Y., Carraro, M., Giollo, M., Ferrari, C., Leonardi, E., Tosatto, S. C. E., Bobe, J., Ball, M., Hoskins, R. A., Repo, S., Church, G., Brenner, S. E., Moult, J., Gough, J., Stanke, M., Karchin, R. & Mooney, S. D., Sep 2017, In : Human mutation. 38, 9, p. 1266-1276 11 p.

Research output: Contribution to journalArticle

2016

Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel)

Douville, C., Masica, D. L., Stenson, P. D., Cooper, D. N., Gygax, D. M., Kim, R., Ryan, M. & Karchin, R., Jan 1 2016, In : Human mutation. 37, 1, p. 28-35 8 p.

Research output: Contribution to journalArticle

Whole genome sequencing defines the genetic heterogeneity of familial pancreatic cancer

Roberts, N. J., Norris, A. L., Petersen, G. M., Bondy, M. L., Brand, R., Gallinger, S., Kurtz, R. C., Olson, S. H., Rustgi, A. K., Schwartz, A. G., Stoffel, E., Syngal, S., Zogopoulos, G., Ali, S. Z., Axilbund, J., Chaffee, K. G., Chen, Y. C., Cote, M. L., Childs, E. J., Douville, C. & 25 others, Goes, F. S., Herman, J. M., Iacobuzio-Donahue, C., Kramer, M., Makohon-Moore, A., McCombie, R. W., Wyatt Mcmahon, K., Niknafs, N., Parla, J., Pirooznia, M., Potash, J. B., Rhim, A. D., Smith, A. L., Wang, Y., Wolfgang, C. L., Wood, L. D., Zandi, P. P., Goggins, M., Karchin, R., Eshleman, J. R., Papadopoulos, N., Kinzler, K. W., Vogelstein, B., Hruban, R. H. & Klein, A. P., Feb 2016, In : Cancer discovery. 6, 2, p. 166-175 10 p.

Research output: Contribution to journalArticle

2015

A Combination of Molecular Markers and Clinical Features Improve the Classification of Pancreatic Cysts

Springer, S., Wang, Y., Dal Molin, M., Masica, D. L., Jiao, Y., Kinde, I., Blackford, A., Raman, S. P., Wolfgang, C. L., Tomita, T., Niknafs, N., Douville, C., Ptak, J., Dobbyn, L., Allen, P. J., Klimstra, D. S., Schattner, M. A., Schmidt, C. M., Yip-Schneider, M., Cummings, O. W. & 47 others, Brand, R. E., Zeh, H. J., Singhi, A. D., Scarpa, A., Salvia, R., Malleo, G., Zamboni, G., Falconi, M., Jang, J. Y., Kim, S. W., Kwon, W., Hong, S. M., Song, K. B., Kim, S. C., Swan, N., Murphy, J., Geoghegan, J., Brugge, W., Fernandez-Del Castillo, C., Mino-Kenudson, M., Schulick, R., Edil, B. H., Adsay, V., Paulino, J., Van Hooft, J., Yachida, S., Nara, S., Hiraoka, N., Yamao, K., Hijioka, S., Van Der Merwe, S., Goggins, M., Canto, M. I., Ahuja, N., Hirose, K., Makary, M., Weiss, M. J., Cameron, J., Pittman, M., Eshleman, J. R., Diaz, L. A., Papadopoulos, N., Kinzler, K. W., Karchin, R., Hruban, R. H., Vogelstein, B. & Lennon, A. M., Nov 2015, In : Gastroenterology. 149, 6, p. 1501-1510 10 p.

Research output: Contribution to journalArticle

Cleaved NOTCH1 expression pattern in head and neck squamous cell carcinoma is associated with NOTCH1 mutation, HPV status, and high-risk features

Rettig, E. M., Chung, C. H., Bishop, J. A., Howard, J. D., Sharma, R., Li, R. J., Douville, C., Karchin, R., Izumchenko, E., Sidransky, D., Koch, W., Califano, J., Agrawal, N. & Fakhry, C., Apr 1 2015, In : Cancer Prevention Research. 8, 4, p. 287-295 9 p.

Research output: Contribution to journalArticle

Predicting survival in head and neck squamous cell carcinoma from TP53 mutation

Masica, D. L., Li, S., Douville, C., Manola, J., Ferris, R. L., Burtness, B., Forastiere, A. A., Koch, W. M., Chung, C. H. & Karchin, R., May 1 2015, In : Human genetics. 134, 5, p. 497-507 11 p.

Research output: Contribution to journalArticle

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

Turner, T. N., Douville, C., Kim, D., Stenson, P. D., Cooper, D. N., Chakravarti, A. & Karchin, R., Jan 1 2015, In : Human molecular genetics. 24, 21, p. 5995-6002 8 p.

Research output: Contribution to journalArticle

2014

A Probabilistic Model to Predict Clinical Phenotypic Traits from Genome Sequencing

Chen, Y. C., Douville, C., Wang, C., Niknafs, N., Yeo, G., Beleva-Guthrie, V., Carter, H., Stenson, P. D., Cooper, D. N., Li, B., Mooney, S. & Karchin, R., Sep 1 2014, In : PLoS computational biology. 10, 9

Research output: Contribution to journalArticle

Open Access

Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions

Sharma, N., Sosnay, P. R., Ramalho, A. S., Douville, C., Franca, A., Gottschalk, L. B., Park, J., Lee, M., Vecchio-Pagan, B., Raraigh, K. S., Amaral, M. D., Karchin, R. & Cutting, G. R., Oct 1 2014, In : Human mutation. 35, 10, p. 1249-1259 11 p.

Research output: Contribution to journalArticle

2013

CRAVAT: Cancer-related analysis of variants toolkit

Douville, C., Carter, H., Kim, R., Niknafs, N., Diekhans, M., Stenson, P. D., Cooper, D. N., Ryan, M. & Karchin, R., Mar 1 2013, In : Bioinformatics. 29, 5, p. 647-648 2 p.

Research output: Contribution to journalArticle

Open Access

Identifying Mendelian disease genes with the variant effect scoring tool.

Carter, H., Douville, C., Stenson, P. D., Cooper, D. N. & Karchin, R., 2013, In : Unknown Journal. 14 Suppl 3

Research output: Contribution to journalArticle

Mutational signature of aristolochic acid exposure as revealed by whole-exome sequencing

Hoang, M. L., Chen, C. H., Sidorenko, V. S., He, J., Dickman, K. G., Yun, B. H., Moriya, M., Niknafs, N., Douville, C., Karchin, R., Turesky, R. J., Pu, Y. S., Vogelstein, B., Papadopoulos, N., Grollman, A. P., Kinzler, K. W. & Rosenquist, T. A., Aug 7 2013, In : Science translational medicine. 5, 197, 197ra102.

Research output: Contribution to journalArticle