Use of Linkage Analysis, Genome-Wide Association Studies, and Next-Generation Sequencing in the Identification of Disease-Causing Mutations
作者： Eric Londin , Priyanka Yadav , Saul Surrey , Larry J. Kricka , Paolo Fortina
DOI: 10.1007/978-1-62703-435-7_8
关键词:
摘要: For the past two decades, linkage analysis and genome-wide have greatly advanced our knowledge of human genome. But despite these successes genetic architecture diseases remains unknown. More recently, availability next-generation sequencing has dramatically increased capability for determining DNA sequences that range from large portions one individual's genome to targeted regions many genomes in a cohort interest. In this review, we highlight shortcomings been achieved using association studies (GWAS) identify variants contributing disease. We further review methods use new technologies, based on sequencing, are becoming increasingly used expand causes
core.ac.uk
springer.com
sci-hub.se 参考文章(82)
T Jenkins, M Ramsay, Alpha-globin gene cluster haplotypes in the Kalahari San and southern African Bantu-speaking blacks. American Journal of Human Genetics. ,vol. 43, pp. 527- 533 ,(1988)
Eleftherios P Diamandis, Next-generation sequencing: A new revolution in molecular diagnostics? Clinical Chemistry. ,vol. 55, pp. 2088- 2092 ,(2009) , 10.1373/CLINCHEM.2009.133389
Johanna M Rommens, Michael C Iannuzzi, Bat-sheva Kerem, Mitchell L Drumm, Georg Melmer, Michael Dean, Richard Rozmahel, Jeffery L Cole, Dara Kennedy, Noriko Hidaka, Martha Zsiga, Manuel Buchwald, Lap-Chee Tsui, John R Riordan, Francis S Collins, Identification of the cystic fibrosis gene: chromosome walking and jumping Science. ,vol. 245, pp. 1059- 1065 ,(1989) , 10.1126/SCIENCE.2772657
Jeffery A Schloss, How to get genomes at one ten-thousandth the cost. Nature Biotechnology. ,vol. 26, pp. 1113- 1115 ,(2008) , 10.1038/NBT1008-1113
Sarah B. Ng, Emily H. Turner, Peggy D. Robertson, Steven D. Flygare, Abigail W. Bigham, Choli Lee, Tristan Shaffer, Michelle Wong, Arindam Bhattacharjee, Evan E. Eichler, Michael Bamshad, Deborah A. Nickerson, Jay Shendure, Targeted capture and massively parallel sequencing of 12 human exomes Nature. ,vol. 461, pp. 272- 276 ,(2009) , 10.1038/NATURE08250
P A Greif, M Yaghmaie, N P Konstandin, B Ksienzyk, K Alimoghaddam, A Ghavamzadeh, A Hauser, A Graf, S Krebs, H Blum, S K Bohlander, Somatic mutations in acute promyelocytic leukemia (APL) identified by exome sequencing. Leukemia. ,vol. 25, pp. 1519- 1522 ,(2011) , 10.1038/LEU.2011.114
Michael A Simpson, Melita D Irving, Esra Asilmaz, Mary J Gray, Dimitra Dafou, Frances V Elmslie, Sahar Mansour, Sue E Holder, Caroline E Brain, Barbara K Burton, Katherine H Kim, Richard M Pauli, Salim Aftimos, Helen Stewart, Chong Ae Kim, Muriel Holder-Espinasse, Stephen P Robertson, William M Drake, Richard C Trembath, Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss Nature Genetics. ,vol. 43, pp. 303- 305 ,(2011) , 10.1038/NG.779
Teri A Manolio, Francis S Collins, Nancy J Cox, David B Goldstein, Lucia A Hindorff, David J Hunter, Mark I McCarthy, Erin M Ramos, Lon R Cardon, Aravinda Chakravarti, Judy H Cho, Alan E Guttmacher, Augustine Kong, Leonid Kruglyak, Elaine Mardis, Charles N Rotimi, Montgomery Slatkin, David Valle, Alice S Whittemore, Michael Boehnke, Andrew G Clark, Evan E Eichler, Greg Gibson, Jonathan L Haines, Trudy FC Mackay, Steven A McCarroll, Peter M Visscher, None, Finding the missing heritability of complex diseases. Nature. ,vol. 461, pp. 747- 753 ,(2009) , 10.1038/NATURE08494
James O'Sullivan, Carolina C Bitu, Sarah B Daly, Jill E Urquhart, Martin J Barron, Sanjeev S Bhaskar, Hercilio Martelli-Júnior, Pedro Eleuterio dos Santos Neto, Maria A Mansilla, Jeffrey C Murray, Ricardo D Coletta, Graeme CM Black, Michael J Dixon, None, Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome American Journal of Human Genetics. ,vol. 88, pp. 616- 620 ,(2011) , 10.1016/J.AJHG.2011.04.005
Janel O. Johnson, Jessica Mandrioli, Michael Benatar, Yevgeniya Abramzon, Vivianna M. Van Deerlin, John Q. Trojanowski, J. Raphael Gibbs, Maura Brunetti, Susan Gronka, Joanne Wuu, Jinhui Ding, Leo McCluskey, Maria Martinez-Lage, Dana Falcone, Dena G. Hernandez, Sampath Arepalli, Sean Chong, Jennifer C. Schymick, Jeffrey Rothstein, Francesco Landi, Yong-Dong Wang, Andrea Calvo, Gabriele Mora, Mario Sabatelli, Maria Rosaria Monsurrò, Stefania Battistini, Fabrizio Salvi, Rossella Spataro, Patrizia Sola, Giuseppe Borghero, Giuliana Galassi, Sonja W. Scholz, J. Paul Taylor, Gabriella Restagno, Adriano Chiò, Bryan J. Traynor, Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS Neuron. ,vol. 68, pp. 857- 864 ,(2010) , 10.1016/J.NEURON.2010.11.036