The Necessity of Diploid Genome Sequencing to Unravel the Genetic Component of Complex Phenotypes

被引:5
作者
Aleman, Fernando [1 ]
机构
[1] Scripps Res Inst, La Jolla, CA 92037 USA
关键词
chromosome phasing; diploid alignment; diploid genomes; GWAS (genome-wide association study); structural variants; genetic variants; SNP association study; Diploid Manhattan Plot; GWAS;
D O I
10.3389/fgene.2017.00148
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页数:3
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共 18 条
[11]   Functional and genomic context in pathway analysis of GWAS data [J].
Mooney, Michael A. ;
Nigg, Joel T. ;
McWeeney, Shannon K. ;
Wilmot, Beth .
TRENDS IN GENETICS, 2014, 30 (09) :390-400
[12]   Efficient introduction of specific homozygous and heterozygous mutations using CRISPR/Cas9 [J].
Paquet, Dominik ;
Kwart, Dylan ;
Chen, Antonia ;
Sproul, Andrew ;
Jacob, Samson ;
Teo, Shaun ;
Olsen, Kimberly Moore ;
Gregg, Andrew ;
Noggle, Scott ;
Tessier-Lavigne, Marc .
NATURE, 2016, 533 (7601) :125-+
[13]   Difference of interleukin-23 receptor gene haplotype variants in ulcerative colitis compared to Crohn's disease and psoriasis [J].
Safrany, Eniko ;
Szabo, Melinda ;
Szell, Marta ;
Kemeny, Lajos ;
Sumegi, Katalin ;
Melegh, Bela I. ;
Magyari, Lili ;
Matyas, Petra ;
Figler, Maria ;
Weber, Agnes ;
Tulassay, Zsolt ;
Melegh, Bela .
INFLAMMATION RESEARCH, 2013, 62 (02) :195-200
[14]   De novo assembly and phasing of a Korean human genome [J].
Seo, Jeong-Sun ;
Rhie, Arang ;
Kim, Junsoo ;
Lee, Sangjin ;
Sohn, Min-Hwan ;
Kim, Chang-Uk ;
Hastie, Alex ;
Cao, Han ;
Yun, Ji-Young ;
Kim, Jihye ;
Kuk, Junho ;
Park, Gun Hwa ;
Kim, Juhyeok ;
Ryu, Hanna ;
Kim, Jongbum ;
Roh, Mira ;
Baek, Jeonghun ;
Hunkapiller, Michael W. ;
Korlach, Jonas ;
Shin, Jong-Yeon ;
Kim, Changhoon .
NATURE, 2016, 538 (7624) :243-+
[15]   Phasing for medical sequencing using rare variants and large haplotype reference panels [J].
Sharp, Kevin ;
Kretzschmar, Warren ;
Delaneau, Olivier ;
Marchini, Jonathan .
BIOINFORMATICS, 2016, 32 (13) :1974-1980
[16]   A haplotype variant of the human chromogranin A gene (CHGA) promoter increases CHGA expression and the risk for cardiometabolic disorders [J].
Subramanian, Lakshmi ;
Khan, Abrar A. ;
Allu, Prasanna K. R. ;
Kiranmayi, Malapaka ;
Sahu, Bhavani S. ;
Sharma, Saurabh ;
Khullar, Madhu ;
Mullasari, Ajit S. ;
Mahapatra, Nitish R. .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2017, 292 (34) :13970-13985
[17]   An integrated map of structural variation in 2,504 human genomes [J].
Sudmant, Peter H. ;
Rausch, Tobias ;
Gardner, Eugene J. ;
Handsaker, Robert E. ;
Abyzov, Alexej ;
Huddleston, John ;
Zhang, Yan ;
Ye, Kai ;
Jun, Goo ;
Fritz, Markus Hsi-Yang ;
Konkel, Miriam K. ;
Malhotra, Ankit ;
Stuetz, Adrian M. ;
Shi, Xinghua ;
Casale, Francesco Paolo ;
Chen, Jieming ;
Hormozdiari, Fereydoun ;
Dayama, Gargi ;
Chen, Ken ;
Malig, Maika ;
Chaisson, Mark J. P. ;
Walter, Klaudia ;
Meiers, Sascha ;
Kashin, Seva ;
Garrison, Erik ;
Auton, Adam ;
Lam, Hugo Y. K. ;
Mu, Xinmeng Jasmine ;
Alkan, Can ;
Antaki, Danny ;
Bae, Taejeong ;
Cerveira, Eliza ;
Chines, Peter ;
Chong, Zechen ;
Clarke, Laura ;
Dal, Elif ;
Ding, Li ;
Emery, Sarah ;
Fan, Xian ;
Gujral, Madhusudan ;
Kahveci, Fatma ;
Kidd, Jeffrey M. ;
Kong, Yu ;
Lameijer, Eric-Wubbo ;
McCarthy, Shane ;
Flicek, Paul ;
Gibbs, Richard A. ;
Marth, Gabor ;
Mason, Christopher E. ;
Menelaou, Androniki .
NATURE, 2015, 526 (7571) :75-+
[18]   Direct determination of diploid genome sequences [J].
Weisenfeld, Neil I. ;
Kumar, Vijay ;
Shah, Preyas ;
Church, Deanna M. ;
Jaffe, David B. .
GENOME RESEARCH, 2017, 27 (05) :757-767