A wonderful time – exciting progress made in the past 20 years in genetics powered by the Human Genome Project
Zhaohui S. Qin
A wonderful time – exciting progress made in the past 20 years in genetics powered by the Human Genome Project
[1] |
Lander S., E. M., Linton C.. Initial sequencing and analysis of the human genome. Nature, 2001, 409
CrossRef
Google scholar
|
[2] |
Venter C., J. D., Adams W., M. W., Myers J., E. G., Li O., P. A., Mural A.. The sequence of the human genome. Science, 2001, 291
CrossRef
Google scholar
|
[3] |
Collins F. S., Green, E. D., Guttmacher, A. E. , Guyer, M. S. , the US National Human Genome Research Institute.. A vision for the future of genomics research. Nature, 2003, 422
CrossRef
Google scholar
|
[4] |
Barski A., Cuddapah, S., Cui, K., Roh, T. Y., Schones, D. E., Wang, Z., Wei, G., Chepelev, I. , Zhao, K.. High-resolution profiling of histone methylations in the human genome. Cell, 2007, 129
CrossRef
Google scholar
|
[5] |
Mortazavi A., Williams, B. A., McCue, K., Schaeffer, L. , Wold, B.. Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat. Methods, 2008, 5
CrossRef
Google scholar
|
[6] |
Buenrostro J. D., Giresi, P. G., Zaba, L. C., Chang, H. Y. , Greenleaf, W. J.. Transposition of native chromatin for fast and sensitive epigenomic profiling of open chromatin, DNA-binding proteins and nucleosome position. Nat. Methods, 2013, 10
CrossRef
Google scholar
|
[7] |
Lieberman-Aiden Berkum, E. L., van R., N. J., Williams O.. Comprehensive mapping of long-range interactions reveals folding principles of the human genome. Science, 2009, 326
CrossRef
Google scholar
|
[8] |
Birney A., E. R., Stamatoyannopoulos H., J. T., Dutta E.. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature, 2007, 447
CrossRef
Google scholar
|
[9] |
International HapMap Consortium. A haplotype map of the human genome. Nature, 2005, 437
CrossRef
Google scholar
|
[10] |
Frazer A., K. G., Ballinger R., D. A., Cox L., D. A., Hinds W., D. M.. A second generation human haplotype map of over 3.1 million SNPs. Nature, 2007, 449
CrossRef
Google scholar
|
[11] |
Dewey E., F. P., Chen E., R. J., Cordero T., S. T., Ormond K.. Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genet., 2011, 7
CrossRef
Google scholar
|
[12] |
Yuan S., Johnston, H. R., Zhang, G., Li, Y., Hu, Y. J. , Qin, Z. S.. One size doesn’t fit all-refeditor: Building personalized diploid reference genome to improve read mapping and genotype calling in next generation sequencing studies. PLOS Comput. Biol., 2015, 11
CrossRef
Google scholar
|
[13] |
Welter
CrossRef
Google scholar
|
[14] |
Zhu Y., Tazearslan, C. , Suh, Y.. Challenges and progress in interpretation of non-coding genetic variants associated with human disease. Exp. Biol. Med. (Maywood), 2017, 242
CrossRef
Google scholar
|
[15] |
Ritchie G. R., Dunham, I., Zeggini, E. , Flicek, P.. Functional annotation of noncoding sequence variants. Nat. Methods, 2014, 11
CrossRef
Google scholar
|
[16] |
Kircher M., Witten, D. M., Jain, P., O’Roak, B. J., Cooper, G. M. , Shendure, J.. A general framework for estimating the relative pathogenicity of human genetic variants. Nat. Genet., 2014, 46
CrossRef
Google scholar
|
[17] |
Ionita-Laza D. A spectral approach integrating functional genomic annotations for coding and noncoding variants. Nat. Genet., 2016, 48
CrossRef
Google scholar
|
[18] |
Chen L., Jin, P. , Qin, Z. S.. DIVAN: accurate identification of non-coding disease-specific risk variants using multi-omics profiles. Genome Biol., 2016, 17
CrossRef
Google scholar
|
[19] |
Zhou L. , Zhao, F.. Prioritization and functional assessment of noncoding variants associated with complex diseases. Genome Med., 2018, 10
CrossRef
Google scholar
|
[20] |
Rojano E., Seoane, P., Ranea, J. A. G. , Perkins, J. R.. Regulatory variants: from detection to predicting impact. Brief. Bioinform., 2019, 20
CrossRef
Google scholar
|
[21] |
Ellegren H.. Microsatellites: simple sequences with complex evolution. Nat. Rev. Genet., 2004, 5
CrossRef
Google scholar
|
[22] |
Ryan C. P.. Tandem repeat disorders. Evol. Med. Public Health, 2019, 2019
CrossRef
Google scholar
|
[23] |
Hsu, P.D., Lander, E.S. and Zhang, F. (2014) Development and applications of CRISPR-Cas9 for genome engineering. Cell. 157, 1262−1278
|
/
〈 | 〉 |