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检索条件"主题词=Non-coding variants"
37 条 记 录,以下是21-30 订阅
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Functional variation of the transthyretin gene among human populations and its correlation with amyloidosis phenotypes
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AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS 2013年 第4期20卷 256-262页
作者: Polimanti, Renato Di Girolamo, Marco Manfellotto, Dario Fuciarelli, Maria Univ Roma Tor Vergata Dept Biol I-00133 Rome Italy Fatebenefratelli Hosp Clin Pathophysiol Ctr AFaR San Giovanni Calibita Rome Italy
Introduction: Heterogeneity in the genotype-phenotype correlation of transthyretin (TTR)-related amyloidosis has been reported, suggesting that other factors may interact with disease-causing mutations. Additional gen... 详细信息
来源: 评论
Genome analysis and knowledge-driven variant interpretation with TGex
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BMC MEDICAL GENOMICS 2019年 第1期12卷 1-17页
作者: Dahary, Dvir Golan, Yaron Mazor, Yaron Zelig, Ofer Barshir, Ruth Twik, Michal Stein, Tsippi Iny Rosner, Guy Kariv, Revital Chen, Fei Zhang, Qiang Shen, Yiping Safran, Marilyn Lancet, Doron Fishilevich, Simon LifeMap Sci Inc Clin Genet Marshfield MA 02050 USA Weizmann Inst Sci Dept Mol Genet Rehovot Israel Tel Aviv Sourasky Med Ctr Dept Gastroenterol Tel Aviv Israel Tel Aviv Univ Fac Med Tel Aviv Israel Childrens Hosp Guangxi Zhuang Autonomous Reg Genet & Metab Cent Lab Birth Defect Prevent Res Inst Maternal & Child Hlth Hosp Nanning 530002 Peoples R China Shanghai Jiao Tong Univ Dept Med Genet & Mol Diagnost Lab Shanghai Childrens Med Ctr Sch Med Shanghai 200127 Peoples R China Harvard Med Sch Dept Neurol Div Genet & Genom Boston Childrens Hosp Boston MA 02115 USA
Background: The clinical genetics revolution ushers in great opportunities, accompanied by significant challenges. The fundamental mission in clinical genetics is to analyze genomes, and to identify the most relevant ... 详细信息
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Novel disease syndromes unveiled by integrative multiscale network analysis of diseases sharing molecular effectors and comorbidities
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BMC MEDICAL GENOMICS 2018年 第6期11卷 1-15页
作者: Li, Haiquan Fan, Jungwei Vitali, Francesca Berghout, Joanne Aberasturi, Dillon Li, Jianrong Wilson, Liam Chiu, Wesley Pumarejo, Minsu Han, Jiali Kenost, Colleen Koripella, Pradeep C. Pouladi, Nima Billheimer, Dean Bedrick, Edward J. Lussier, Yves A. Univ Arizona Ctr Biomed Informat & Biostat Tucson AZ 85721 USA Univ Arizona Coll Med Tucson Dept Med Tucson AZ 85721 USA Univ Arizona Grad Interdisciplinary Program Stat Tucson AZ 85721 USA Univ Arizona Ctr Appl Genet & Genom Med Tucson AZ 85721 USA Univ Arizona Ctr Innovat Brain Sci Tucson AZ 85721 USA Univ Arizona UA Canc Ctr Tucson AZ 85721 USA Univ Arizona Univ Arizona Hlth Sci Tucson AZ 85721 USA Univ Arizona Coll Publ Hlth Epidemiol & Biostat Dept Tucson AZ 85721 USA Univ Arizona Dept Biosyst Engn Tucson AZ 85721 USA Univ Arizona Dept Syst & Ind Engn Tucson AZ 85721 USA
BackgroundForty-two percent of patients experience disease comorbidity, contributing substantially to mortality rates and increased healthcare costs. Yet, the possibility of underlying shared mechanisms for diseases r... 详细信息
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Enhancer variants associated with Alzheimer's disease affect gene expression via chromatin looping
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BMC MEDICAL GENOMICS 2019年 第1期12卷 1-16页
作者: Kikuchi, Masataka Hara, Norikazu Hasegawa, Mai Miyashita, Akinori Kuwano, Ryozo Ikeuchi, Takeshi Nakaya, Akihiro Osaka Univ Grad Sch Med Dept Genome Informat 2-2 Yamadaoka Suita Osaka 5650871 Japan Niigata Univ Brain Res Inst Dept Mol Genet Niigata Japan Asahigawaso Res Inst Asahigawaso Med Welf Ctr Okayama Japan
Background Genome-wide association studies (GWASs) have identified single-nucleotide polymorphisms (SNPs) that may be genetic factors underlying Alzheimer's disease (AD). However, how these AD-associated SNPs (AD ... 详细信息
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Data integration for functional annotation of regulatory single nucleotide polymorphisms associated with Alzheimer's disease susceptibility
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GENE 2018年 672卷 115-125页
作者: Amber, Sanila Zahid, Saadia Natl Univ Sci & Technol Atta ur Rahman Sch Appl Biosci Dept Healthcare Biotechnol Neurobiol Res Lab Islamabad Pakistan
Background. Alzheimer's disease (AD), the most common form of dementia affects 24.3 million people worldwide. More than twenty genetic loci have been associated with AD and a significant number of genetic variants... 详细信息
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SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements
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NUCLEUS 2017年 第2期8卷 182-187页
作者: Smyk, Marta Akdemir, Kadir Caner Stankiewicz, Pawel Inst Mother & Child Hlth Dept Med Genet Warsaw Poland Univ Texas MD Anderson Canc Ctr Genom Med Dept Houston TX 77030 USA Baylor Coll Med Dept Mol & Human Genet One Baylor PlazaRm R809 Houston TX 77030 USA
Evolutionary conserved transcription factor SOX9, encoded by the dosage sensitive SOX9 gene on chromosome 17q24.3, plays an important role in development of multiple organs, including bones and testes. Heterozygous po... 详细信息
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Using DIVAN to assess disease/trait-associated single nucleotide variants in genome-wide scale
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BMC Research Notes 2017年 第1期10卷 1-7页
作者: Chen, Li Qin, Zhaohui S. Department of Health Outcomes Research and Policy Harrison School of Pharmacy Auburn University Auburn 36849 AL United States Department of Biostatistics and Bioinformatics Rollins School of Public Health Emory University Atlanta 30322 GA United States Department of Biomedical Informatics Emory University School of Medicine Atlanta 30322 GA United States
Objective: The majority of sequence variants identified by Genome-wide association studies (GWASs) fall outside of the protein-coding regions. Unlike coding variants, it is challenging to connect these noncoding varia... 详细信息
来源: 评论
Deciphering the Quantitative Effects of Cooperativity and Mutations on Transcription Factor Binding
Deciphering the Quantitative Effects of Cooperativity and Mu...
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作者: Martin, Vincentius Duke University
学位级别:Ph.D., Doctor of Philosophy
Transcription factor (TF) proteins bind to DNA in a sequence specific manner to regulate gene expression. The binding affinity of TFs for individual sites is well characterized and can be represented using DNA motif m... 详细信息
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A semi-supervised deep learning approach for predicting the functional effects of genomic non-coding variations
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BMC BIOINFORMATICS 2021年 第SUPPL 6期22卷 128-128页
作者: Jia, Hao Park, Sung-Joon Nakai, Kenta Univ Tokyo Dept Comp Sci Bunkyo Ku 7-3-1 Hongo Tokyo 1138656 Japan Univ Tokyo Human Genome Ctr Inst Med Sci Minato Ku 4-6-1 Shirokanedai Tokyo 1088639 Japan
Background Understanding the functional effects of non-coding variants is important as they are often associated with gene-expression alteration and disease development. Over the past few years, many computational too... 详细信息
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Implementing next-generation sequencing for diagnosis and management of hereditary hearing impairment: a comprehensive review
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Expert review of molecular diagnostics 2024年 第9期24卷 753-765页
作者: Cheng-Yu Tsai Jacob Shu-Jui Hsu Pei-Lung Chen Chen-Chi Wu Graduate Institute of Medical Genomics and Proteomics National Taiwan University College of Medicine Taipei Taiwan. Department of Otolaryngology National Taiwan University Hospital Taipei Taiwan. Graduate Institute of Clinical Medicine National Taiwan University College of Medicine Taipei Taiwan. Institute of Molecular Medicine National Taiwan University College of Medicine Taipei Taiwan. Department of Medical Genetics National Taiwan University Hospital Taipei Taiwan. Department of Medical Research National Taiwan University Hospital Hsin-Chu Branch Hsinchu Taiwan. Department of Otolaryngology National Taiwan University Hospital Hsin-Chu Branch Hsinchu Taiwan.
INTRODUCTION:Sensorineural hearing impairment (SNHI), a common childhood disorder with heterogeneous genetic causes, can lead to delayed language development and psychosocial problems. Next-generation sequencing (NGS)... 详细信息
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