Results 41 to 50 of about 358,877 (267)

Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain. [PDF]

, 2018
Aging is a complex process strongly determined by genetics. Previous reports have shown that the genome of neuronal cells displays somatic genomic mosaicism including DNA copy number variations (CNVs).
Grinberg, Lea T, Leite, Renata, Pasqualucci, Carlos Augusto, Pearson, Peter, Rosenberg, Carla, Suemoto, Claudia K, Suemoto, Claudia K, Villela, Darine   +7 more
core   +1 more source

Genomic heterogeneity and structural variation in soybean near isogenic lines

Frontiers in Plant Science, 2013
Near-isogenic lines (NILs) are a critical genetic resource for the soybean research community. The ability to identify and characterize the genes driving the phenotypic differences between NILs is limited by the degree to which differential genetic ...
Adrian O. Stec, Pudota B. Bhaskar, Pudota B. Bhaskar, Yung Tsi Bolon, Rebecca eNolan, Rebecca eNolan, Rebecca eNolan, Randy C. Shoemaker, Randy C. Shoemaker, Carroll P. Vance, Carroll P. Vance, Robert M. Stupar   +11 more
doaj   +1 more source

Patterns of structural variation define prostate cancer across disease states

JCI Insight, 2022
The complex genomic landscape of prostate cancer evolves across disease states under therapeutic pressure directed toward inhibiting androgen receptor (AR) signaling.
Meng Zhou, Minjeong Ko, Anna C.H. Hoge, Kelsey Luu, Yuzhen Liu, Magdalena L. Russell, William W. Hannon, Zhenwei Zhang, Jian Carrot-Zhang, Rameen Beroukhim, Eliezer M. Van Allen, Atish D. Choudhury, Peter S. Nelson, Matthew L. Freedman, Mary-Ellen Taplin, Matthew Meyerson, Srinivas R. Viswanathan, Gavin Ha   +17 more
doaj   +1 more source

Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline [PDF]

, 2018
Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment.
Amanti, C, De Marchis, L, Germani, A, Libi, F, Lombardi, A, Maggi, S, Mattei, M, Pellegrini, P, Piane, M, Pizzuti, A, Stanzani., G, Torrisi, Mr   +11 more
core   +1 more source

Structural genomic variations and Parkinson's disease

Minerva Medica, 2017
Parkinson's disease (PD) is the second most common neurodegenerative disease, whose prevalence is projected to be between 8.7 and 9.3 million by 2030. Until about 20 years ago, PD was considered to be the textbook example of a "non-genetic" disorder.
Bandres-Ciga, Sara, Ruz, Clara, Barrero Hernández, Francisco Javier, Escamilla-Sevilla, Francisco, Pelegrina, Javier, Vives, Francisco, Durán, Raquel   +6 more
openaire   +3 more sources

Applications of next-generation sequencing technologies and computational tools in molecular evolution and aquatic animals conservation studies : a short review [PDF]

, 2019
Aquatic ecosystems that form major biodiversity hotspots are critically threatened due to environmental and anthropogenic stressors. We believe that, in this genomic era, computational methods can be applied to promote aquatic biodiversity conservation ...
Afiqah-Aleng, Nor, Danish-Daniel, Muhd, Mohd Nor, Siti Azizah, Razali, Siti Aisyah, Sorgeloos, Patrick, Sung, Yeong Yik, Tan, Min Pau, Van de Peer, Yves, Wong, Li Lian   +8 more
core   +1 more source

Structural Genome Variations Related to Craniosynostosis [PDF]

Molecular Syndromology, 2018
Craniosynostosis refers to a condition during early development in which one or more of the fibrous sutures of the skull prematurely fuse by turning into bone, which produces recognizable patterns of cranial shape malformations depending on which suture(s) are affected.
openaire   +2 more sources

Genome maps across 26 human populations reveal population-specific patterns of structural variation. [PDF]

, 2019
Large structural variants (SVs) in the human genome are difficult to detect and study by conventional sequencing technologies. With long-range genome analysis platforms, such as optical mapping, one can identify large SVs (>2 kb) across the genome in ...
Cao, Han, Chan, Ting-Fung, Chow, Eugene YC, Chu, Catherine, Chung, Claire YL, Hastie, Alex R, Jin, Nana, Kwok, Pui-Yan, Lam, Ernest T, Leung, Alden KY, Levy-Sakin, Michal, Li, Le, Lin, Chin, Ma, Walfred, McCaffrey, Jennifer, Mostovoy, Yulia, Naguib, Ahmed, Pastor, Steven, Poon, Annie, Rajagopalan, Ramakrishnan, Sibert, Justin, Wang, Wei-Ping, Wong, Karen HY, Xiao, Ming, Yip, Kevin Y, Young, Eleanor   +25 more
core   +2 more sources

Genomic Variation in Dengue Virus Non-Structural Protein 5 (NS5).

Journal of Aziz Fatimah Medical and Dental College
Objective: To identify the most frequently repeated mutations in the NS5 protein in DENV RNA isolated from dengue patients in the province Punjab of Pakistan.
Saira Mushtaq, Malik Ihsan Ullah Khan, Muhammad Tahir Khan, Aneeqa Shahid, Rameesha Shafiq, Sarwat Jahan   +5 more
doaj   +3 more sources

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. [PDF]

PLoS Genetics, 2015
Inverted repeats (IRs) can facilitate structural variation as crucibles of genomic rearrangement. Complex duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) rearrangements that contain breakpoint junctions within IRs have been recently ...
Christine R Beck, Claudia M B Carvalho, Linda Banser, Tomasz Gambin, Danielle Stubbolo, Bo Yuan, Karen Sperle, Suzanne M McCahan, Marco Henneke, Pavel Seeman, James Y Garbern, Grace M Hobson, James R Lupski   +12 more
doaj   +1 more source