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Items: 8

1.

GATK PathSeq: a customizable computational tool for the discovery and identification of microbial sequences in libraries from eukaryotic hosts.

Walker MA, Pedamallu CS, Ojesina AI, Bullman S, Sharpe T, Whelan CW, Meyerson M.

Bioinformatics. 2018 Dec 15;34(24):4287-4289. doi: 10.1093/bioinformatics/bty501.

2.

Structural Alterations Driving Castration-Resistant Prostate Cancer Revealed by Linked-Read Genome Sequencing.

Viswanathan SR, Ha G, Hoff AM, Wala JA, Carrot-Zhang J, Whelan CW, Haradhvala NJ, Freeman SS, Reed SC, Rhoades J, Polak P, Cipicchio M, Wankowicz SA, Wong A, Kamath T, Zhang Z, Gydush GJ, Rotem D; PCF/SU2C International Prostate Cancer Dream Team, Love JC, Getz G, Gabriel S, Zhang CZ, Dehm SM, Nelson PS, Van Allen EM, Choudhury AD, Adalsteinsson VA, Beroukhim R, Taplin ME, Meyerson M.

Cell. 2018 Jul 12;174(2):433-447.e19. doi: 10.1016/j.cell.2018.05.036. Epub 2018 Jun 18.

3.

A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica.

Estrada K, Whelan CW, Zhao F, Bronson P, Handsaker RE, Sun C, Carulli JP, Harris T, Ransohoff RM, McCarroll SA, Day-Williams AG, Greenberg BM, MacArthur DG.

Nat Commun. 2018 May 16;9(1):1929. doi: 10.1038/s41467-018-04332-3.

4.

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.

Ganna A, Genovese G, Howrigan DP, Byrnes A, Kurki M, Zekavat SM, Whelan CW, Kals M, Nivard MG, Bloemendal A, Bloom JM, Goldstein JI, Poterba T, Seed C, Handsaker RE, Natarajan P, Mägi R, Gage D, Robinson EB, Metspalu A, Salomaa V, Suvisaari J, Purcell SM, Sklar P, Kathiresan S, Daly MJ, McCarroll SA, Sullivan PF, Palotie A, Esko T, Hultman C, Neale BM.

Nat Neurosci. 2016 Dec;19(12):1563-1565. doi: 10.1038/nn.4404. Epub 2016 Oct 3.

5.

Ring chromosomes, breakpoint clusters, and neocentromeres in sarcomas.

Macchia G, Nord KH, Zoli M, Purgato S, D'Addabbo P, Whelan CW, Carbone L, Perini G, Mertens F, Rocchi M, Storlazzi CT.

Genes Chromosomes Cancer. 2015 Mar;54(3):156-67. doi: 10.1002/gcc.22228. Epub 2014 Nov 25.

PMID:
25421174
6.

Gibbon genome and the fast karyotype evolution of small apes.

Carbone L, Harris RA, Gnerre S, Veeramah KR, Lorente-Galdos B, Huddleston J, Meyer TJ, Herrero J, Roos C, Aken B, Anaclerio F, Archidiacono N, Baker C, Barrell D, Batzer MA, Beal K, Blancher A, Bohrson CL, Brameier M, Campbell MS, Capozzi O, Casola C, Chiatante G, Cree A, Damert A, de Jong PJ, Dumas L, Fernandez-Callejo M, Flicek P, Fuchs NV, Gut I, Gut M, Hahn MW, Hernandez-Rodriguez J, Hillier LW, Hubley R, Ianc B, Izsvák Z, Jablonski NG, Johnstone LM, Karimpour-Fard A, Konkel MK, Kostka D, Lazar NH, Lee SL, Lewis LR, Liu Y, Locke DP, Mallick S, Mendez FL, Muffato M, Nazareth LV, Nevonen KA, O'Bleness M, Ochis C, Odom DT, Pollard KS, Quilez J, Reich D, Rocchi M, Schumann GG, Searle S, Sikela JM, Skollar G, Smit A, Sonmez K, ten Hallers B, Terhune E, Thomas GW, Ullmer B, Ventura M, Walker JA, Wall JD, Walter L, Ward MC, Wheelan SJ, Whelan CW, White S, Wilhelm LJ, Woerner AE, Yandell M, Zhu B, Hammer MF, Marques-Bonet T, Eichler EE, Fulton L, Fronick C, Muzny DM, Warren WC, Worley KC, Rogers J, Wilson RK, Gibbs RA.

Nature. 2014 Sep 11;513(7517):195-201. doi: 10.1038/nature13679.

7.

Genomic organization and evolution of double minutes/homogeneously staining regions with MYC amplification in human cancer.

L'Abbate A, Macchia G, D'Addabbo P, Lonoce A, Tolomeo D, Trombetta D, Kok K, Bartenhagen C, Whelan CW, Palumbo O, Severgnini M, Cifola I, Dugas M, Carella M, De Bellis G, Rocchi M, Carbone L, Storlazzi CT.

Nucleic Acids Res. 2014 Aug;42(14):9131-45. doi: 10.1093/nar/gku590. Epub 2014 Jul 17.

8.

A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons.

Capozzi O, Carbone L, Stanyon RR, Marra A, Yang F, Whelan CW, de Jong PJ, Rocchi M, Archidiacono N.

Genome Res. 2012 Dec;22(12):2520-8. doi: 10.1101/gr.138651.112. Epub 2012 Aug 14.

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