Results 221 to 230 of about 157,645 (329)

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

, 2012
Menachem Fromer, Jennifer L. Moran, Kimberly Chambert, Eric Banks, Sarah E. Bergen, Douglas M. Ruderfer, Robert E. Handsaker, Steven A. McCarroll, Michael O’Donovan, Michael J. Owen, George Kirov, Patrick F. Sullivan, Christina M. Hultman, Pamela Sklar, Shaun Purcell   +14 more
openalex   +2 more sources

Genome Editing Technologies to Improve Health‐Related Phytocompounds in Crops

Food Frontiers, EarlyView.
ABSTRACT Due to rapid global population growth and the resulting significant increase in food demand, the world is facing an epidemic of malnutrition. Although yield improvement remains one of the main targets of breeding programs, much attention is being paid to the nutritional aspects of crops, including nutrients and bioactive compounds that are ...
Maria Dellino, Claudio de Giovanni, Monica Marilena Miazzi, Cinzia Montemurro, Domenica Nigro   +4 more
wiley   +1 more source

Human Migration, Population Divergence, and the Accumulation of Deleterious Alleles: Insights from Private Genetic Variation and Whole-exome Sequencing. [PDF]

, 2012
Zachary A. Szpiech
openalex  

Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

, 2013
Charalampos Tzoulis, Stefan Johansson, Bjørn Ivar Haukanes, Helge Boman, Per M. Knappskog, Laurence A. Bindoff   +5 more
openalex   +2 more sources

Whole‐Exome Sequencing Reveals Overlap Between Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis and Familial Hemophagocytic Lymphohistiocytosis [PDF]

, 2014
Kenneth M. Kaufman, Bolan Linghu, Joseph D. Szustakowski, Ammar Husami, Fan Yang, Kejian Zhang, Alexandra H. Filipovich, Ndate Fall, John B. Harley, Nanguneri Nirmala, Alexei A. Grom   +10 more
openalex   +1 more source

Novel characterization of CASK variant c.1963 A>G (p.Asn655Asp) through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report

Case Reports in Women's Health
Whole-exome sequencing is an evolving technology in perinatal diagnosis which allows identification of genetic etiologies that would otherwise go undetermined.
Nathan A. Keller, Luis A. Bracero, Insaf Kouba, Abigail Steinberg, Jolene Muscat, David Bergman   +5 more
doaj  

Whole-exome sequencing identifies distinct genomic aberrations in eccrine porocarcinomas and poromas. [PDF]

Orphanet J Rare Dis
Puttonen M, Almusa H, Böhling T, Koljonen V, Sihto H.   +4 more
europepmc   +1 more source

Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation

, 2013
Guangwu Guo, Xiaojuan Sun, Chao Chen, Song Wu, Peide Huang, Zesong Li, Michael Dean, Yi Huang, Wenlong Jia, Quan Zhou, Aifa Tang, Zuoquan Yang, Xianxin Li, Pengfei Song, Xiaokun Zhao, Rui Ye, Shiqiang Zhang, Lin Zhao, Mingfu Qi, Shengqing Wan, Liangfu Xie, Fan Fan, Michael L. Nickerson, Xiangjun Zou, Xueda Hu, Xing Li, Zhaojie Lv, Hongbin Mei, Shengjie Gao, Chang Yin Liang, Zhibo Gao, Jingxiao Lu, Yuan Yu, Chunxiao Liu, Lin Li, Xiaodong Fang, Zhimao Jiang, Jie Yang, Cailing Li, Xin Zhao, Jing Chen, Fang Zhang, Yongqi Lai, Zheguang Lin, Fangjian Zhou, Hao Chen, Hsiao Chang Chan, Shirley Tsang, Dan Theodorescu, Yingrui Li, Xiuqing Zhang, Jian Wang, Huanming Yang, Yaoting Gui, Jun Wang, Zhiming Cai   +55 more
openalex   +2 more sources

Whole-Exome Sequencing Characterizes the Landscape of Somatic Mutations and Copy Number Alterations in Adrenocortical Carcinoma [PDF]

, 2014
C. Christofer Juhlin, Gerald Goh, James M. Healy, Annabelle L. Fonseca, Ute I. Scholl, Adam Stenman, John W. Kunstman, T Brown, John D. Overton, Shrikant Mane, Carol Nelson‐Williams, Martin Bäckdahl, Anna‐Carinna Suttorp, Matthias Haase, Murim Choi, Joseph Schlessinger, David L. Rimm, Anders Höög, Manju L. Prasad, Reju Korah, Catharina Larsson, Richard P. Lifton, Tobias Carling   +22 more
openalex   +1 more source

Whole exome sequencing of multi-regions reveals tumor heterogeneity in Opisthorchis viverrini-associated cholangiocarcinoma. [PDF]

Sci Rep
Sitthirak S, Wangwiwatsin A, Jusakul A, Namwat N, Klanrit P, Dokduang H, Sa-Ngiamwibool P, Titapun A, Jareanrat A, Thanasukarn V, Khuntikeo N, Teh BT, Boulter L, Murakami Y, Loilome W.   +14 more
europepmc   +1 more source