Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.
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DOI：
10.1016/j.ymgme.2011.12.014
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发表时间：
2012-03
影响因子：
3.8
通讯作者：
Boerkoel, Cornelius F.
中科院分区：
文献类型：
--
作者：
Markello, Thomas C.;Han, Ted;Carlson-Donohoe, Hannah;Ahaghotu, Chidi;Harper, Ursula;Jones, MaryPat;Chandrasekharappa, Settara;Anikster, Yair;Adams, David R.;Gahl, William A.;Boerkoel, Cornelius F.
小谱系的全基因组序列数据已被证明提供足够的信息来解析小谱系中的详细单倍型。使用这样的信息，重组可以被映射到染色体上，与感兴趣的疾病的分离进行比较，并用于过滤基因组序列变异。我们现在表明，来自小谱系的相对便宜的SNP阵列数据可以以类似的方式用于提供在外显子组测序项目中鉴定感兴趣区域的手段。我们表明，在这些情况下，人们可以假设完全的同源性和父母的DNA是可用的，SNP重组映射使用布尔逻辑识别染色体区域相同的多点连锁使用微卫星，但少得多的计算。我们进一步表明，这种方法是成功的，因为信息SNP位点之间的双交叉的概率是可以忽略不计的。我们的观察结果提供了一个合理的使用SNP阵列和重组映射作为一种快速和具有成本效益的手段，将染色体分离信息纳入外显子组测序项目旨在疾病基因识别。
Whole genome sequence data for small pedigrees has been shown to provide sufficient information to resolve detailed haplotypes in small pedigrees. Using such information, recombinations can be mapped onto chromosomes, compared with the segregation of a disease of interest and used to filter genome sequence variants. We now show that relatively inexpensive SNP array data from small pedigrees can be used in a similar manner to provide a means of identifying regions of interest in exome sequencing projects. We demonstrate that in those situations where one can assume complete penetrance and parental DNA is available, SNP recombination mapping using Boolean logic identifies chromosomal regions identical to those detected by multipoint linkage using microsatellites but with much less computation. We further show that this approach is successful because the probability of a double crossover between informative SNP loci is negligible. Our observations provide a rationale for using SNP arrays and recombination mapping as a rapid and cost-effective means of incorporating chromosome segregation information into exome sequencing projects intended for disease-gene identification.
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影响因子：
3.7
作者：
Jiang H;Orr A;Guernsey DL;Robitaille J;Asselin G;Samuels ME;Dubé MP
通讯作者：
Dubé MP
影响因子：
64.8
作者：
Frazer, Kelly A.;Ballinger, Dennis G.;Cox, David R.;Hinds, David A.;Stuve, Laura L.;Gibbs, Richard A.;Belmont, John W.;Boudreau, Andrew;Hardenbol, Paul;Leal, Suzanne M.;Pasternak, Shiran;Wheeler, David A.;Willis, Thomas D.;Yu, Fuli;Yang, Huanming;Zeng, Changqing;Gao, Yang;Hu, Haoran;Hu, Weitao;Li, Chaohua;Lin, Wei;Liu, Siqi;Pan, Hao;Tang, Xiaoli;Wang, Jian;Wang, Wei;Yu, Jun;Zhang, Bo;Zhang, Qingrun;Zhao, Hongbin;Zhao, Hui;Zhou, Jun;Gabriel, Stacey B.;Barry, Rachel;Blumenstiel, Brendan;Camargo, Amy;Defelice, Matthew;Faggart, Maura;Goyette, Mary;Gupta, Supriya;Moore, Jamie;Nguyen, Huy;Onofrio, Robert C.;Parkin, Melissa;Roy, Jessica;Stahl, Erich;Winchester, Ellen;Ziaugra, Liuda;Altshuler, David;Shen, Yan;Yao, Zhijian;Huang, Wei;Chu, Xun;He, Yungang;Jin, Li;Liu, Yangfan;Shen, Yayun;Sun, Weiwei;Wang, Haifeng;Wang, Yi;Wang, Ying;Xiong, Xiaoyan;Xu, Liang;Waye, Mary M. Y.;Tsui, Stephen K. W.;Wong, J. Tze-Fei;Galver, Luana M.;Fan, Jian-Bing;Gunderson, Kevin;Murray, Sarah S.;Oliphant, Arnold R.;Chee, Mark S.;Montpetit, Alexandre;Chagnon, Fanny;Ferretti, Vincent;Leboeuf, Martin;Olivier, Jean-Franccois;Phillips, Michael S.;Roumy, Stephanie;Sallee, Clementine;Verner, Andrei;Hudson, Thomas J.;Kwok, Pui-Yan;Cai, Dongmei;Koboldt, Daniel C.;Miller, Raymond D.;Pawlikowska, Ludmila;Taillon-Miller, Patricia;Xiao, Ming;Tsui, Lap-Chee;Mak, William;Song, You Qiang;Tam, Paul K. H.;Nakamura, Yusuke;Kawaguchi, Takahisa;Kitamoto, Takuya;Morizono, Takashi;Nagashima, Atsushi;Ohnishi, Yozo;Sekine, Akihiro;Tanaka, Toshihiro;Tsunoda, Tatsuhiko;Deloukas, Panos;Bird, Christine P.;Delgado, Marcos;Dermitzakis, Emmanouil T.;Gwilliam, Rhian;Hunt, Sarah;Morrison, Jonathan;Powell, Don;Stranger, Barbara E.;Whittaker, Pamela;Bentley, David R.;Daly, Mark J.;de Bakker, Paul I. W.;Barrett, Jeff;Chretien, Yves R.;Maller, Julian;McCarroll, Steve;Patterson, Nick;Pe'er, Itsik;Price, Alkes;Purcell, Shaun;Richter, Daniel J.;Sabeti, Pardis;Saxena, Richa;Schaffner, Stephen F.;Sham, Pak C.;Varilly, Patrick;Altshuler, David;Stein, Lincoln D.;Krishnan, Lalitha;Smith, Albert Vernon;Tello-Ruiz, Marcela K.;Thorisson, Gudmundur A.;Chakravarti, Aravinda;Chen, Peter E.;Cutler, David J.;Kashuk, Carl S.;Lin, Shin;Abecasis, Goncalo R.;Guan, Weihua;Li, Yun;Munro, Heather M.;Qin, Zhaohui Steve;Thomas, Daryl J.;McVean, Gilean;Auton, Adam;Bottolo, Leonardo;Cardin, Niall;Eyheramendy, Susana;Freeman, Colin;Marchini, Jonathan;Myers, Simon;Spencer, Chris;Stephens, Matthew;Donnelly, Peter;Cardon, Lon R.;Clarke, Geraldine;Evans, David M.;Morris, Andrew P.;Weir, Bruce S.;Tsunoda, Tatsuhiko;Johnson, Todd A.;Mullikin, James C.;Sherry, Stephen T.;Feolo, Michael;Skol, Andrew
通讯作者：
Skol, Andrew
影响因子：
9.8
作者：
O'Connell, JR;Weeks, DE
通讯作者：
Weeks, DE
影响因子：
9.8
作者：
Roach, Jared C.;Glusman, Gustavo;Smit, Arian F. A.
通讯作者：
Smit, Arian F. A.
DOI：
10.1056/nejmoa0912923
发表时间：
2011-02-03
期刊：
The New England journal of medicine
影响因子：
--
作者：
St Hilaire C;Ziegler SG;Markello TC;Brusco A;Groden C;Gill F;Carlson-Donohoe H;Lederman RJ;Chen MY;Yang D;Siegenthaler MP;Arduino C;Mancini C;Freudenthal B;Stanescu HC;Zdebik AA;Chaganti RK;Nussbaum RL;Kleta R;Gahl WA;Boehm M
通讯作者：
Boehm M