Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

by Palles, Claire, Cazier, Jean-Baptiste, Howarth, Kimberley M., Domingo, Enric, Jones, Angela M., Broderick, Peter, Kemp, Zoe, Spain, Sarah L., Guarino, Estrella, Guarino Almeida, Estrella, Salguero, Israel, Sherborne, Amy, Chubb, Daniel, Carvajal-Carmona, Luis G., Ma, Yusanne, Kaur, Kulvinder, Dobbins, Sara, Barclay, Ella, Gorman, Maggie, Martin, Lynn, Kovac, Michal B., Humphray, Sean, Lucassen, Anneke, Holmes, Christopher C., Bentley, David, Donnelly, Peter, Taylor, Jenny, Petridis, Christos, Roylance, Rebecca, Sawyer, Elinor J., Kerr, David J., Clark, Susan, Grimes, Jonathan, Kearsey, Stephen E., Thomas, Huw J.W, McVean, Gilean, Houlston, Richard S., Tomlinson, Ian
Published 2012

Detection of long repeat expansions from PCR-free whole-genome sequence data

by Dolzhenko, Egor, van Vugt, Joke J.F.A, Shaw, Richard J., Bekritsky, Mitchell A., van Blitterswijk, Marka, Narzisi, Giuseppe, Ajay, Subramanian S., Rajan, Vani, Lajoie, Bryan R., Johnson, Nathan H., Kingsbury, Zoya, Humphray, Sean J., Schellevis, Raymond D., Brands, William J., Baker, Matt, Rademakers, Rosa, Kooyman, Maarten, Tazelaar, Gijs H.P, van Es, Michael A., McLaughlin, Russell, Sproviero, William, Shatunov, Aleksey, Jones, Ashley, Al Khleifat, Ahmad, Pittman, Alan, Morgan, Sarah, Hardiman, Orla, Al-Chalabi, Ammar, Shaw, Chris, Smith, Bradley, Neo, Edmund J., Morrison, Karen, Shaw, Pamela J., Reeves, Catherine, Winterkorn, Lara, Wexler, Nancy S., Taft, Ryan J., van den Berg, Leonard H., Bentley, David R., Veldink, Jan H., Eberle, Michael A., Housman, David E, Ng, Christopher W., Li, Alina L.
Published 2018