A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation Export

@article{citeulike:4372998, abstract = {Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR), the largest direct screen for constitutional disease-causing mutations thus far reported. The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy. The study has, however, also highlighted issues confronting whole-genome sequencing screens, including the observation that loss of function of 1\% or more of X-chromosome genes is compatible with apparently normal existence.}, author = {Tarpey, Patrick S. and Smith, Raffaella and Pleasance, Erin and Whibley, Annabel and Edkins, Sarah and Hardy, Claire and O'Meara, Sarah and Latimer, Calli and Dicks, Ed and Menzies, Andrew and Stephens, Phil and Blow, Matt and Greenman, Chris and Xue, Yali and Tyler-Smith, Chris and Thompson, Deborah and Gray, Kristian and Andrews, Jenny and Barthorpe, Syd and Buck, Gemma and Cole, Jennifer and Dunmore, Rebecca and Jones, David and Maddison, Mark and Mironenko, Tatiana and Turner, Rachel and Turrell, Kelly and Varian, Jennifer and West, Sofie and Widaa, Sara and Wray, Paul and Teague, Jon and Butler, Adam and Jenkinson, Andrew and Jia, Mingming and Richardson, David and Shepherd, Rebecca and Wooster, Richard and Tejada, M. Isabel and Martinez, Francisco and Carvill, Gemma and Goliath, Rene and de Brouwer, Arjan P. M. and van Bokhoven, Hans and Van Esch, Hilde and Chelly, Jamel and Raynaud, Martine and Ropers, Hans-Hilger and Abidi, Fatima E. and Srivastava, Anand K. and Cox, James and Luo, Ying and Mallya, Uma and Moon, Jenny and Parnau, Josef and Mohammed, Shehla and Tolmie, John L. and Shoubridge, Cheryl and Corbett, Mark and Gardner, Alison and Haan, Eric and Rujirabanjerd, Sinitdhorn and Shaw, Marie and Vandeleur, Lucianne and Fullston, Tod and Easton, Douglas F. and Boyle, Jackie and Partington, Michael and Hackett, Anna and Field, Michael and Skinner, Cindy and Stevenson, Roger E. and Bobrow, Martin and Turner, Gillian and Schwartz, Charles E. and Gecz, Jozef and Raymond, F. Lucy and Futreal, P. Andrew and Stratton, Michael R.}, citeulike-article-id = {4372998}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/ng.367}, citeulike-linkout-1 = {http://dx.doi.org/10.1038/ng.367}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/19377476}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=19377476}, day = {19}, doi = {10.1038/ng.367}, issn = {1061-4036}, journal = {Nature Genetics}, keywords = {a, coding, exons, large-scale, resequencing, screen, systematic}, month = {April}, number = {5}, pages = {535--543}, posted-at = {2009-10-30 07:09:47}, priority = {2}, publisher = {Nature Publishing Group}, title = {A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation}, url = {http://dx.doi.org/10.1038/ng.367}, volume = {41}, year = {2009} }

TY - JOUR ID - citeulike:4372998 L3 - citeulike-article-id:4372998 N2 - Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR), the largest direct screen for constitutional disease-causing mutations thus far reported. The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy. The study has, however, also highlighted issues confronting whole-genome sequencing screens, including the observation that loss of function of 1% or more of X-chromosome genes is compatible with apparently normal existence. IS - 5 JF - Nature Genetics SN - 1061-4036 EP - 543 TI - A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation PB - Nature Publishing Group VL - 41 SP - 535 KW - a KW - coding KW - exons KW - large-scale KW - resequencing KW - screen KW - systematic AU - Tarpey, Patrick AU - Smith, Raffaella AU - Pleasance, Erin AU - Whibley, Annabel AU - Edkins, Sarah AU - Hardy, Claire AU - O'Meara, Sarah AU - Latimer, Calli AU - Dicks, Ed AU - Menzies, Andrew AU - Stephens, Phil AU - Blow, Matt AU - Greenman, Chris AU - Xue, Yali AU - Tyler-Smith, Chris AU - Thompson, Deborah AU - Gray, Kristian AU - Andrews, Jenny AU - Barthorpe, Syd AU - Buck, Gemma AU - Cole, Jennifer AU - Dunmore, Rebecca AU - Jones, David AU - Maddison, Mark AU - Mironenko, Tatiana AU - Turner, Rachel AU - Turrell, Kelly AU - Varian, Jennifer AU - West, Sofie AU - Widaa, Sara AU - Wray, Paul AU - Teague, Jon AU - Butler, Adam AU - Jenkinson, Andrew AU - Jia, Mingming AU - Richardson, David AU - Shepherd, Rebecca AU - Wooster, Richard AU - Tejada, Isabel AU - Martinez, Francisco AU - Carvill, Gemma AU - Goliath, Rene AU - de Brouwer, Arjan AU - van Bokhoven, Hans AU - Van Esch, Hilde AU - Chelly, Jamel AU - Raynaud, Martine AU - Ropers, Hans-Hilger AU - Abidi, Fatima AU - Srivastava, Anand AU - Cox, James AU - Luo, Ying AU - Mallya, Uma AU - Moon, Jenny AU - Parnau, Josef AU - Mohammed, Shehla AU - Tolmie, John AU - Shoubridge, Cheryl AU - Corbett, Mark AU - Gardner, Alison AU - Haan, Eric AU - Rujirabanjerd, Sinitdhorn AU - Shaw, Marie AU - Vandeleur, Lucianne AU - Fullston, Tod AU - Easton, Douglas AU - Boyle, Jackie AU - Partington, Michael AU - Hackett, Anna AU - Field, Michael AU - Skinner, Cindy AU - Stevenson, Roger AU - Bobrow, Martin AU - Turner, Gillian AU - Schwartz, Charles AU - Gecz, Jozef AU - Raymond, Lucy AU - Futreal, Andrew AU - Stratton, Michael PY - 2009/04/19/ UR - http://dx.doi.org/10.1038/ng.367 ER -