Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications von Rimmer, Andy, Phan, Hang, Mathieson, Iain, Iqbal, Zamin, Twigg, Stephen R F, Wilkie, Andrew O M, McVean, Gil, Lunter, Gerton

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Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies von Pagnamenta, Alistair T, Lise, Stefano, Harrison, Victoria, Stewart, Helen, Jayawant, Sandeep, Quaghebeur, Gerardine, Deng, Alexander T, Murphy, Valerie Elizabeth, Sadighi Akha, Elham, Rimmer, Andy, Mathieson, Iain, Knight, Samantha J L, Kini, Usha, Taylor, Jenny C, Keays, David A

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Erythrocytosis associated with a novel missense mutation in the BPGM gene von Petousi, Nayia, Copley, Richard R, Lappin, Terence R J, Haggan, Sally E, Bento, Celeste M, Cario, Holger, Percy, Melanie J, Ratcliffe, Peter J, Robbins, Peter A, McMullin, Mary Frances

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An integrated map of genetic variation from 1,092 human genomes von Abecasis, Goncalo R, Auton, Adam, Brooks, Lisa D, DePristo, Mark A, Durbin, Richard M, Handsaker, Robert E, Kang, Hyun Min, Marth, Gabor T, McVean, Gil A

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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas von Palles, Claire, Cazier, Jean-Baptiste, Howarth, Kimberley M, Domingo, Enric, Jones, Angela M, Broderick, Peter, Kemp, Zoe, Spain, Sarah L, Guarino, 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

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Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel von Delaneau, Olivier, Marchini, Jonathan

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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis von Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline A C, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Nu Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan J, Phipps, Julie M, Sweeney, Elizabeth, Tomkins, Susan E, Wilson, Louise C, Bennett, Sophia, Cornall, Richard J, Broxholme, John, Kanapin, Alexander, Johnson, David, Wall, Steven A, van der Spek, Peter J, Mathijssen, Irene M J, Maxson, Robert E, Twigg, Stephen R F, Wilkie, Andrew O M

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Congenital myasthenic syndromes due to mutations in ALG2 and ALG14 von COSSINS, Judith, BELAYA, Katsiaryna, LAVAL, Steven, ZAIN SEIDHAMED, Mohammed, DONNELLY, Peter, BENTLEY, David, MCGOWAN, Simon J, MÜLLER, Juliane, PALACE, Jacqueline, LOCHMÜLLER, Hanns, BEESON, David, HICKS, Debbie, SALIH, Mustafa A, FINLAYSON, Sarah, CARBONI, Nicola, WEI WEI LIU, MAXWELL, Susan, ZOLTOWSKA, Katarzyna, TORABI FARSANI, Golara

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Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders von van Schouwenburg, Pauline A, Davenport, Emma E, Kienzler, Anne-Kathrin, Marwah, Ishita, Wright, Benjamin, Lucas, Mary, Malinauskas, Tomas, Martin, Hilary C, Lockstone, Helen E, Cazier, Jean-Baptiste, Chapel, Helen M, Knight, Julian C, Patel, Smita Y

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Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden von Cazier, J. -B., Rao, S. R., McLean, C. M., Walker, A. K., Wright, B. J., Jaeger, E. E. M., Kartsonaki, C., Marsden, L., Yau, C., Camps, C., Kaisaki, P., Taylor, J., Catto, J. W., Tomlinson, I. P. M., Kiltie, A. E., Hamdy, F. C.

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Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability von Twigg, Stephen R.F., Forecki, Jennifer, Goos, Jacqueline A.C., Richardson, Ivy C.A., Hoogeboom, A. Jeannette M., van den Ouweland, Ans M.W., Swagemakers, Sigrid M.A., Lequin, Maarten H., Van Antwerp, Daniel, McGowan, Simon J., Westbury, Isabelle, Miller, Kerry A., Wall, Steven A., van der Spek, Peter J., Mathijssen, Irene M.J., Pauws, Erwin, Merzdorf, Christa S., Wilkie, Andrew O.M.

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Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I von Babbs, C., Roberts, N. A., Sanchez-Pulido, L., McGowan, S. J., Ahmed, M. R., Brown, J. M., Sabry, M. A., Bentley, D. R., McVean, G. A., Donnelly, P., Gileadi, O., Ponting, C. P., Higgs, D. R., Buckle, V. J.

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Calling Variants from Sequence Data von Rimmer, Andy

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Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications von Rimmer, Andy, Phan, Hang, Mathieson, Iain, Iqbal, Zamin, Twigg, Stephen R.F, Wilkie, Andrew O.M, McVean, Gil, Lunter, Gerton

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Evidence-based scientific exercise guidelines for adults with spinal cord injury: an update and a new guideline von Martin Ginis, Kathleen A., van der Scheer, Jan W., Latimer-Cheung, Amy E., Barrow, Andy, Bourne, Chris, Carruthers, Peter, Bernardi, Marco, Ditor, David S., Gaudet, Sonja, de Groot, Sonja, Hayes, Keith C., Hicks, Audrey L., Leicht, Christof A., Lexell, Jan, Macaluso, Steven, Manns, Patricia J., McBride, Christopher B., Noonan, Vanessa K., Pomerleau, Pierre, Rimmer, James H., Shaw, Robert B., Smith, Brett, Smith, Karen M., Steeves, John D., Tussler, Dot, West, Christopher R., Wolfe, Dalton L., Goosey-Tolfrey, Victoria L.

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Post-exercise Supplementation of Sodium Bicarbonate Improves Acid Base Balance Recovery and Subsequent High-Intensity Boxing Specific Performance von Gough, Lewis A., Rimmer, Steven, Sparks, S. Andy, McNaughton, Lars R., Higgins, Matthew F.

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Influence of family history on penetrance of hereditary cancers in a population setting von Jackson, Leigh, Weedon, Michael N., Green, Harry D., Mallabar-Rimmer, Bethan, Harrison, Jamie W., Wood, Andy R., Ruth, Kate S., Tyrrell, Jess, Wright, Caroline F.

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Correction: Evidence-based scientific exercise guidelines for adults with spinal cord injury: an update and a new guideline von Ginis, Kathleen A. Martin, van der Scheer, Jan W., Latimer-Cheung, Amy E., Barrow, Andy, Bourne, Chris, Carruthers, Peter, Bernardi, Marco, Ditor, David S., Gaudet, Sonja, de Groot, Sonja, Hayes, Keith C., Hicks, Audrey L., Leicht, Christof A., Lexell, Jan, Macaluso, Steven, Manns, Patricia J., McBride, Christopher B., Noonan, Vanessa K., Pomerleau, Pierre, Rimmer, James H., Shaw, Robert B., Smith, Brett, Smith, Karen M., Steeves, John D., Tussler, Dot, West, Christopher R., Wolfe, Dalton L., Goosey-Tolfrey, Victoria L.

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Response to correspondence from the ESSA Statement authors von Martin Ginis, Kathleen A., van der Scheer, Jan W., Latimer-Cheung, Amy E., Barrow, Andy, Bourne, Chris, Carruthers, Peter, Bernardi, Marco, Ditor, David S., Gaudet, Sonja, de Groot, Sonja, Hayes, Keith C., Hicks, Audrey L., Leicht, Christof A., Lexell, Jan, Macaluso, Steven, Manns, Patricia J., McBride, Christopher B., Noonan, Vanessa, Pomerleau, Pierre, Rimmer, James H., Shaw, Robert B., Smith, Brett, Smith, Karen M., Steeves, John, Tussler, Dot, West, Christopher R., Wolfe, Dalton L., Goosey-Tolfrey, Victoria L.

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Antibody-drug conjugates: integrated bioanalytical and biodisposition assessments in lead optimization and selection von Beaumont, Maribel, Tomazela, Daniela, Hodges, Douglas, Ermakov, Grigori, Hsieh, Edward, Figueroa, Isabel, So, On-Yee, Song, Yaoli, Ma, Huiping, Antonenko, Svetlana, Mengesha, Wondwessen, Zhang, Yi Wei, Zhang, Shuli, Hseih, SuChun, Ayanoglu, Gulesi, Du, Xiaoyan, Rimmer, Eric, Judo, Michael, Vives, Franklin, Yearley, Jennifer H., Moon, Christina, Manibusan, Anthony, Knudsen, Nick, Beck, Andy, Bresson, Damien, Gately, Dennis, Neupane, Divas, Escandón, Enrique

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