Category: 2018

Single-cell sequencing defines genetic heterogeneity in pancreatic cancer precursor lesions S

Kuboki Y, Fischer CG, Beleva Guthrie V, Huang W, Yu J, Chianchiano P, Hosoda W, Zhang H, Zheng L, Shao X, Thompson ED, Waters K, Poling J, He J, Weiss MJ, Wolfgang CL, Goggins MG, Hruban RH, Roberts NJ, Karchin R, Wood LD. (2018). Single-cell sequencing defines genetic heterogeneity in pancreatic cancer precursor lesions. Journal of Pathology. …

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Bridging the Chromosome-centric and Biology/Disease-driven Human Proteome Projects: Accessible and Automated Tools for Interpreting the Biological and Pathological Impact of Protein Sequence Variants Detected via Proteogenomics B

Sajulga R, Mehta S, Kumar P, Johnson JE, Guerrero CR, Ryan MC, Karchin R, Jagtap PD, Griffin TJ. (2018). Bridging the Chromosome-centric and Biology/Disease-driven Human Proteome Projects: Accessible and Automated Tools for Interpreting the Biological and Pathological Impact of Protein Sequence Variants Detected via Proteogenomics. J. Proteome Res. Sep 5. doi: 10.1021/acs.jproteome.8b00404. [Epub ahead of print]

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Minimal functional driver gene heterogeneity among untreated metastases M

Reiter JG, Makohon-Moore AP, Gerold JM, Heyde A, Attiyeh MA, Kohutek ZA, Tokheim CJ, Brown A, DeBlasio RM, Niyazov J, Zucker A, Karchin R, Kinzler KW, Iacobuzio-Donahue CA, Vogelstein B, Nowak MA. (2018). Minimal functional driver gene heterogeneity among untreated metastases. Science. Sep 7;361(6406):1033-1037.

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A machine learning approach for somatic mutation discovery A

Wood DE, White JR, Georgiadis A, Van Emburgh B, Parpart-Li S, Mitchell J, Anagnostou V, Niknafs N, Karchin R, Papp E, McCord C, LoVerso P, Riley D, Diaz LA Jr, Jones S, Sausen M, Velculescu VE, Angiuoli SV. (2018). A machine learning approach for somatic mutation discovery. Sci Transl Med. Sep 5;10(457). pii: eaar7939. doi: 10.1126/scitranslmed.aar7939.

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IPMNs with co-occurring invasive cancers: neighbours but not always relatives I

Felsenstein M, Noë M, Masica DL, Hosoda W, Chianchiano P, Fischer CG, Lionheart G, Brosens LAA, Pea A, Yu J, Gemenetzis G, Groot VP, Makary MA, He J, Weiss MJ, Cameron JL, Wolfgang CL, Hruban RH, Roberts NJ, Karchin R, Goggins MG, Wood LD. IPMNs with co-occurring invasive cancers: neighbours but not always relatives. Gut. …

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Network Analysis of Protein Adaptation: Modeling the Functional Impact of Multiple Mutations N

Guthrie VB, Masica DL, Fraser A, Federico J, Fan Y, Camps M, Karchin R (2018). Network Analysis of Protein Adaptation: modeling the functional impact of multiple mutations. Mol. Biol. Evo. msy036, https://doi.org/10.1093/molbev/msy036 [Epub ahead of print]

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

Wang Y, Li L, Douville C, Cohen JD, Yen TT, Kinde I, Sundfelt K, Kjær SK, Hruban RH, Shih IM, Wang TL, Kurman RJ, Springer S, Ptak J, Popoli M, Schaefer J, Silliman N, Dobbyn L, Tanner EJ, Angarita A, Lycke M, Jochumsen K, Afsari B, Danilova L, Levine DA, Jardon K, Zeng X, Arseneau …

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

Springer SU, Chen CH, Rodriguez Pena MDC, Li L, Douville C, Wang Y, Cohen JD, Taheri D, Silliman N, Schaefer J, Ptak J, Dobbyn L, Papoli M, Kinde I, Afsari B, Tregnago AC, Bezerra SM, VandenBussche C, Fujita K, Ertoy D, Cunha IW, Yu L, Bivalacqua TJ, Grollman AP, Diaz LA, Karchin R, Danilova L, …

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Systematic Functional Annotation of Somatic Mutations in Cancer S

Ng PK, Li J, Jeong KJ, Shao S, Chen H, Tsang YH, Sengupta S, Wang Z, Bhavana VH, Tran R, Soewito S, Minussi DC, Moreno D, Kong K, Dogruluk T, Lu H, Gao J, Tokheim C, Zhou DC, Johnson AM, Zeng J, Ip CKM, Ju Z, Wester M, Yu S, Li Y, Vellano CP, Schultz …

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Detection of aneuploidy in patients with cancer through amplification of long interspersed nucleotide elements (LINEs) D

Douville C, Springer S, Kinde I, Cohen JD, Hruban RH, Lennon AM, Papadopolous N, Kinzler KW, Vogelstein B, Karchin R (2018) Detection of aneuploidy in patients with cancer through amplification of long interspersed nucleotide elements (LINEs) Proc Natl Acad Sci USA 115(8):1871-1876

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