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检索条件"主题词=coding variants"
15 条 记 录,以下是11-20 订阅
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Linking a genome-wide association study signal to a LRRK2 coding variant in Parkinson's disease
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MOVEMENT DISORDERS 2016年 第4期31卷 484-487页
作者: Foo, Jia Nee Chung, Sun Ju Tan, Louis C. Liany, Herty Ryu, Ho-Sung Hong, Myunghee Koh, Tat Hung Irwan, Ishak D. Au, Wing-Lok Prakash, Kumar-M. Aung, Tin Cheng, Ching-Yu Chong, Siow-Ann Khor, Chiea Chuen Lee, Jimmy Tai, E-Shyong Vithana, Eranga N. Wong, Tien-Yin Song, Kyuyoung Liu, Jianjun Tan, Eng-King ASTAR Genome Inst Singapore Human Genet Singapore Singapore Univ Ulsan Coll Med Asan Med Ctr Dept Neurol Seoul South Korea Singapore Gen Hosp Natl Neurosci Inst Dept Neurol Singapore 169856 Singapore Univ Ulsan Coll Med Dept Biochem & Mol Biol Seoul South Korea Singapore Eye Res Inst Singapore Singapore Natl Univ Singapore Yong Loo Lin Sch Med Dept Ophthalmol Singapore 117595 Singapore Duke Natl Univ Singapore Grad Med Sch Singapore Singapore Inst Mental Hlth Singapore Singapore Natl Univ Singapore Yong Loo Lin Sch Med Dept Biochem Singapore 117595 Singapore Natl Univ Singapore Yong Loo Lin Sch Med Dept Med Natl Univ Hlth Syst Singapore 117595 Singapore Natl Univ Singapore Natl Univ Hlth Syst Saw Swee Hock Sch Publ Hlth Singapore 117548 Singapore
BackgroundGenome-wide association studies have identified several loci associated with Parkinson's disease (PD). Whole-exome sequencing detects rare coding variants, but their links with PD genome-wide association... 详细信息
来源: 评论
A new deep learning technique reveals the exclusive functional contributions of individual cancer mutations
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JOURNAL OF BIOLOGICAL CHEMISTRY 2022年 第8期298卷 102177页
作者: Gupta, Prashant Jindal, Aashi Ahuja, Gaurav Jayadeva Sengupta, Debarka Indian Inst Technol Delhi IIT D Dept Elect Engn Delhi India Indraprastha Inst Informat Technol Delhi IIIT D Dept Computat Biol Delhi India Indian Inst Technol Delhi IIT D Yardi Sch Artificial Intelligence Delhi India Indraprastha Inst Informat Technol Delhi IIIT D Dept Comp Sci & Engn Delhi India Indraprastha Inst Informat Technol Delhi IIIT D Ctr Artificial Intelligence Delhi India
Cancers are caused by genomic alterations that may be inherited, induced by environmental carcinogens, or caused due to random replication errors. Postinduction of carcinogenicity, mutations further propagate and dras... 详细信息
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The Contribution of Low-Frequency and Rare coding Variation to Susceptibility to Type 2 Diabetes
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CURRENT DIABETES REPORTS 2019年 第5期19卷 25-25页
作者: Flannick, Jason Boston Childrens Hosp Div Genet & Genom Boston MA 02115 USA Harvard Med Sch Dept Pediat Boston MA 02115 USA Broad Inst MIT & Harvard Program Med & Populat Genet Cambridge MA 02142 USA Broad Inst MIT & Harvard Program Metab Cambridge MA 02142 USA
Purpose of ReviewSoon after the first genome-wide association study (GWAS) for type 2 diabetes (T2D) was published, it was hypothesized that rare and low-frequency variants might explain a substantial proportion of di... 详细信息
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Gene interactions and modifiers in epilepsy
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EPILEPSIA 2010年 第Sup5期51卷 66-66页
作者: Meisler, Miriam H. Univ Michigan Dept Human Genet Ann Arbor MI 48109 USA
The onset, progression, and severity of epilepsy vary between family members with identical mutations in primary disease genes. The background of genetic variation unique to each individual genome contributes to clini... 详细信息
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TREM2 is associated with increased risk for Alzheimer's disease in African Americans
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MOLECULAR NEURODEGENERATION 2015年 第1期10卷 19-19页
作者: Jin, Sheng Chih Carrasquillo, Minerva M. Benitez, Bruno A. Skorupa, Tara Carrell, David Patel, Dwani Lincoln, Sarah Krishnan, Siddharth Kachadoorian, Michaela Reitz, Christiane Mayeux, Richard Wingo, Thomas S. Lah, James J. Levey, Allan I. Murrell, Jill Hendrie, Hugh Foroud, Tatiana Graff-Radford, Neill R. Goate, Alison M. Cruchaga, Carlos Ertekin-Taner, Niluefer Washington Univ Sch Med Dept Psychiat St Louis MO 63110 USA Mayo Clin Dept Neurosci Jacksonville FL 32224 USA Columbia Univ Dept Neurol New York NY 10032 USA Columbia Univ Dept Psychiat New York NY 10032 USA Columbia Univ Dept Epidemiol New York NY 10032 USA Columbia Univ Taub Inst Res Alzheimers Dis & Aging Brain Coll Phys & Surg New York NY 10032 USA Emory Univ Sch Med Dept Neurol Atlanta GA 30033 USA Atlanta Vet Adm Med Ctr Div Neurol Atlanta GA 30033 USA Indiana Univ Sch Med Dept Pathol & Lab Med Indianapolis IN 46202 USA Indiana Univ Ctr Aging Res Indianapolis IN 46202 USA Regenstrief Inst Inc Indianapolis IN 46202 USA Indiana Univ Sch Med Dept Med & Mol Genet Indianapolis IN 46202 USA Mayo Clin Dept Neurol Jacksonville FL 32224 USA Washington Univ Sch Med Hope Ctr Program Prot Aggregat & Neurodegenerat St Louis MO 63110 USA Washington Univ Sch Med Dept Neurol St Louis MO 63110 USA Washington Univ Sch Med Joanne Knight Alzheimers Dis Res Ctr St Louis MO 63108 USA Washington Univ Sch Med Dept Genet St Louis MO 63110 USA
Background: TREM2 encodes for triggering receptor expressed on myeloid cells 2 and has rare, coding variants that associate with risk for late-onset Alzheimer's disease (LOAD) in Caucasians of European and North-A... 详细信息
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