Using DIVAN to assess disease/trait-associated single nucleotide variants in genome-wide scale

by Li Chen, Zhaohui S. Qin
Published 2017-10-01

GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson’s disease: a two-cohort case-control study

by Hong-xu Pan, Yu-wen Zhao, Jun-pu Mei, Zheng-huan Fang, Yige Wang, Xun Zhou, Yang-jie Zhou, Rui Zhang, Kai-lin Zhang, Li Jiang, Qian Zeng, Yan He, Zheng Wang, Zhen-hua Liu, Qian Xu, Qi-ying Sun, Yang Yang, Ya-cen Hu, Ya-se Chen, Juan Du, Li-fang Lei, Hai-nan Zhang, Chun-yu Wang, Xin-xiang Yan, Lu Shen, Hong Jiang, Jie-qiong Tan, Jin-chen Li, Bei-sha Tang, Ji-feng Guo
Published 2020-08-01

Associating disease-related genetic variants in intergenic regions to the genes they impact

by Geoff Macintyre, Antonio Jimeno Yepes, Cheng Soon Ong, Karin Verspoor
Published 2014-10-01

A semi-supervised deep learning approach for predicting the functional effects of genomic non-coding variations

by Hao Jia, Sung-Joon Park, Kenta Nakai
Published 2021-06-01

Novel disease syndromes unveiled by integrative multiscale network analysis of diseases sharing molecular effectors and comorbidities

by Haiquan Li, Jungwei Fan, Francesca Vitali, Joanne Berghout, Dillon Aberasturi, Jianrong Li, Liam Wilson, Wesley Chiu, Minsu Pumarejo, Jiali Han, Colleen Kenost, Pradeep C. Koripella, Nima Pouladi, Dean Billheimer, Edward J. Bedrick, Yves A. Lussier
Published 2018-12-01

Enhancer variants associated with Alzheimer’s disease affect gene expression via chromatin looping

by Masataka Kikuchi, Norikazu Hara, Mai Hasegawa, Akinori Miyashita, Ryozo Kuwano, Takeshi Ikeuchi, Akihiro Nakaya
Published 2019-09-01

Beyond association: successes and challenges in linking non-coding genetic variation to functional consequences that modulate Alzheimer’s disease risk

by Gloriia Novikova, Shea J. Andrews, Alan E. Renton, Edoardo Marcora
Published 2021-04-01

Role of Non-Coding Variants in Brugada Syndrome

by Adrian Pérez-Agustín, Mel·lina Pinsach-Abuin, Sara Pagans
Published 2020-11-01

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions

by Chiara Guglielmi, Rosa Scarpitta, Gaetana Gambino, Eleonora Conti, Francesca Bellè, Mariella Tancredi, Tiziana Cervelli, Elisabetta Falaschi, Cinzia Cosini, Paolo Aretini, Caterina Congregati, Marco Marino, Margherita Patruno, Brunella Pilato, Francesca Spina, Luisa Balestrino, Elena Tenedini, Ileana Carnevali, Laura Cortesi, Enrico Tagliafico, Maria Grazia Tibiletti, Stefania Tommasi, Matteo Ghilli, Caterina Vivanet, Alvaro Galli, Maria Adelaide Caligo
Published 2021-07-01

Non-Coding Variants in <i>BRCA1</i> and <i>BRCA2</i> Genes: Potential Impact on Breast and Ovarian Cancer Predisposition

by Elizabeth Santana dos Santos, François Lallemand, Leslie Burke, Dominique Stoppa-Lyonnet, Melissa Brown, Sandrine M. Caputo, Etienne Rouleau
Published 2018-11-01

Genome analysis and knowledge-driven variant interpretation with TGex

by Dvir Dahary, Yaron Golan, Yaron Mazor, Ofer Zelig, Ruth Barshir, Michal Twik, Tsippi Iny Stein, Guy Rosner, Revital Kariv, Fei Chen, Qiang Zhang, Yiping Shen, Marilyn Safran, Doron Lancet, Simon Fishilevich
Published 2019-12-01

The Future is The Past: Methylation QTLs in Schizophrenia

by Anke Hoffmann, Michael Ziller, Dietmar Spengler
Published 2016-11-01

A Non-coding HES1 Variant Predisposes Children to Congenital Heart Disease in Chinese Population

by Yangliu Song, Weicheng Chen, Zitong Huang, Zitong Huang, Guixiang Tian, Guixiang Tian, Mengru Li, Mengru Li, Zhengshan Zhao, Zhengshan Zhao, Zhiyu Feng, Feizhen Wu, Maoxiang Qian, Xiaojing Ma, Wei Sheng, Wei Sheng, Guoying Huang, Guoying Huang
Published 2021-01-01

Systematic Evaluation of DNA Sequence Variations on in vivo Transcription Factor Binding Affinity

by Yutong Jin, Jiahui Jiang, Ruixuan Wang, Zhaohui S. Qin
Published 2021-09-01