Long-read sequence assembly of the gorilla genome.
作者： D. Gordon , J. Huddleston , M. J. P. Chaisson , C. M. Hill , Z. N. Kronenberg
关键词:
摘要: Accurate sequence and assembly of genomes is a critical first step for studies genetic variation. We generated high-quality the gorilla genome using single-molecule, real-time technology string graph de novo algorithm. The new improves contiguity by two to three orders magnitude with respect previously released assemblies, recovering 87% missing reference exons incomplete gene models. Although regions large, high-identity segmental duplications remain largely unresolved, this comprehensive provides biological insight into diversity, structural variation, loss, representation repeat structures within genome. approach path forward routine mammalian at level approaching that current quality human
sciencemag.org参考文章(63)
A M Little, P Parham, Polymorphism and evolution of HLA class I and II genes and molecules. Reviews in immunogenetics. ,vol. 1, pp. 105- 123 ,(1999)
Gene Myers, Efficient Local Alignment Discovery amongst Noisy Long Reads workshop on algorithms in bioinformatics. pp. 52- 67 ,(2014) , 10.1007/978-3-662-44753-6_5
Tiong Yang Tan, Christopher T. Gordon, Kerry A Miller, David J. Amor, Peter G. Farlie, YPEL1overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis Developmental Dynamics. ,vol. 244, pp. 1022- 1030 ,(2015) , 10.1002/DVDY.24299
Aleksandr Kirov, Doreen Kacer, Barbara A. Conley, Calvin P.H. Vary, Igor Prudovsky, AHNAK2 Participates in the Stress-Induced Nonclassical FGF1 Secretion Pathway. Journal of Cellular Biochemistry. ,vol. 116, pp. 1522- 1531 ,(2015) , 10.1002/JCB.25047
Konstantin Berlin, Sergey Koren, Chen-Shan Chin, James P Drake, Jane M Landolin, Adam M Phillippy, Assembling large genomes with single-molecule sequencing and locality-sensitive hashing Nature Biotechnology. ,vol. 33, pp. 623- 630 ,(2015) , 10.1038/NBT.3238
Chimpanzee Sequencing and Analysis Consortium Waterson Robert H. waterston@ gs. washington. edu Lander Eric S. lander@ broad. mit. edu Wilson Richard K. rwilson@ watson. wustl. edu, None, Initial sequence of the chimpanzee genome and comparison with the human genome Nature. ,vol. 437, pp. 69- 87 ,(2005) , 10.1038/NATURE04072
Matthew Pendleton, Robert Sebra, Andy Wing Chun Pang, Ajay Ummat, Oscar Franzen, Tobias Rausch, Adrian M Stütz, William Stedman, Thomas Anantharaman, Alex Hastie, Heng Dai, Markus Hsi-Yang Fritz, Han Cao, Ariella Cohain, Gintaras Deikus, Russell E Durrett, Scott C Blanchard, Roger Altman, Chen-Shan Chin, Yan Guo, Ellen E Paxinos, Jan O Korbel, Robert B Darnell, W Richard McCombie, Pui-Yan Kwok, Christopher E Mason, Eric E Schadt, Ali Bashir, Assembly and diploid architecture of an individual human genome via single-molecule technologies Nature Methods. ,vol. 12, pp. 780- 786 ,(2015) , 10.1038/NMETH.3454
Slavé Petrovski, Quanli Wang, Erin L. Heinzen, Andrew S. Allen, David B. Goldstein, Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes PLoS Genetics. ,vol. 9, pp. e1003709- ,(2013) , 10.1371/JOURNAL.PGEN.1003709
Alexander Favorov, Loris Mularoni, Leslie M. Cope, Yulia Medvedeva, Andrey A. Mironov, Vsevolod J. Makeev, Sarah J. Wheelan, Exploring Massive, Genome Scale Datasets with the GenometriCorr Package PLoS Computational Biology. ,vol. 8, pp. e1002529- ,(2012) , 10.1371/JOURNAL.PCBI.1002529
Nicola J. Royle, Duncan M. Baird, Alec J. Jeffreys, A subterminal satellite located adjacent to telomeres in chimpanzees is absent from the human genome. Nature Genetics. ,vol. 6, pp. 52- 56 ,(1994) , 10.1038/NG0194-52