5.9
CiteScore
5.9
Impact Factor

2020 Vol. 47, No. 10

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Review
Untangling a complex web: Computational analyses of tumor molecular profiles to decode driver mechanisms
Sirvan Khalighi, Salendra Singh, Vinay Varadan
2020, 47(10): 595-609. doi: 10.1016/j.jgg.2020.11.001
Abstract (192) HTML PDF (4)
Abstract:
Genome-scale studies focusing on molecular profiling of cancers across tissue types have revealed a plethora of aberrations across the genomic, transcriptomic, and epigenomic scales. The significant molecular heterogeneity across individual tumors even within the same tissue context complicates deco...
Original Research
Dynamics of severe acute respiratory syndrome coronavirus 2 genome variants in the feces during convalescence
Yi Xu, Lu Kang, Zijie Shen, Xufang Li, Weili Wu, Wentai Ma, Chunxiao Fang, Fengxia Yang, Xuan Jiang, Sitang Gong, Li Zhang, Mingkun Li
2020, 47(10): 610-617. doi: 10.1016/j.jgg.2020.10.002
Abstract (129) HTML PDF (8)
Abstract:
In response to the current coronavirus disease 2019 (COVID-19) pandemic, it is crucial to understand the origin, transmission, and evolution of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which relies on close surveillance of genomic diversity in clinical samples. Although the muta...
Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation
Xiulan Su, Yufei Feng, Sofia A. Rahman, Shuilong Wu, Guoan Li, Franz Rüschendorf, Lei Zhao, Hongwei Cui, Junqing Liang, Liang Fang, Hao Hu, Sebastian Froehler, Yong Yu, Giannino Patone, Oliver Hummel, Qinghua Chen, Klemens Raile, Friedrich C. Luft, Sylvia Bähring, Khalid Hussain, Wei Chen, Jingjing Zhang, Maolian Gong
2020, 47(10): 618-626. doi: 10.1016/j.jgg.2020.07.008
Abstract (128) HTML PDF (3)
Abstract:
Congenital hearing loss is a common disorder worldwide. Heterogeneous gene variation accounts for approximately 20–25% of such patients. We investigated a five-generation Chinese family with autosomal-dominant nonsyndromic sensorineural hearing loss (SNHL). No wave was detected in the pure-tone audi...
Phosphatidylinositol 4-kinase β is required for the ciliogenesis of zebrafish otic vesicle
Yufei Feng, Ping Yu, Jingyu Li, Ying Cao, Jingjing Zhang
2020, 47(10): 627-636. doi: 10.1016/j.jgg.2020.07.007
Abstract (122) HTML PDF (3)
Abstract:
The primary cilium, an important microtubule-based organelle, protrudes from nearly all the vertebrate cells. The motility of cilia is necessary for various developmental and physiological processes. Phosphoinositides (PIs) and its metabolite, PtdIns(4,5)P2, have been revealed to contribute to cilia...
Genomic atlases of introgression and differentiation reveal breeding footprints in Chinese cultivated rice
Zhuo Chen, Xiuxiu Li, Hongwei Lu, Qiang Gao, Huilong Du, Hua Peng, Peng Qin, Chengzhi Liang
2020, 47(10): 637-649. doi: 10.1016/j.jgg.2020.10.006
Abstract (259) HTML PDF (14)
Abstract:
The long history of cultivation and breeding has left a variety of footprints in the genomes of Asian cultivated rice (Oryza sativa L.). In this study, we focus on two types of genomic footprints, introgression and differentiation, in a population of more than 1200 Chinese rice accessions. We found ...
Letter to the Editor
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)
Simranpreet Kaur, Nicole J. Van Bergen, Bruria Ben-Zeev, Emanuela Leonardi, Tiong Y. Tan, David Coman, Benjamin Kamien, Susan M. White, Miya St John, Dean Phelan, Kristin Rigbye, Sze Chern Lim, Michelle C. Torres, Melanie Marty, Elena Savva, Teresa Zhao, Sean Massey, Alessandra Murgia, Wendy A. Gold, John Christodoulou
2020, 47(10): 650-654. doi: 10.1016/j.jgg.2020.09.003
Abstract (93) HTML PDF (3)
Abstract:
Robust capturing chromosome conformation using the DLO Hi-C 2.0 method
Zhihui Zhang, Chengchao Wu, Khaista Rahman, Weize Xu, Guoliang Li, Da Lin, Gang Cao
2020, 47(10): 655-658. doi: 10.1016/j.jgg.2020.11.003
Abstract (91) HTML PDF (3)
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