Search Results - "Non-coding variants"

TSVM: Transfer Support Vector Machine for Predicting MPRA Validated Regulatory Variants

Li, M., Zhou, S., Liu, T., Liu, C., Zang, M., Wang, Q.

Predicting the functional effects of human non-coding variants based on stacking ensemble learning

Liu, Zepeng, Huang, Xiao-Tai, Chan, Kei Hang Katie, Gao, Lin

2022 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)

Benchmarking and building DNA binding affinity models using allele-specific and allele-agnostic transcription factor binding data

Xiaoting Li, Lucas A. N. Melo, Harmen J. Bussemaker

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DNA-binding factor footprints and enhancer RNAs identify functional non-coding genetic variants

Biddie, Simon C.^{Aff1, Aff2, IDs13059024033521_cor1}, Weykopf, Giovanna, Hird, Elizabeth F., Friman, Elias T., Bickmore, Wendy A.^{Aff1, IDs13059024033521_cor5}

Rewriting regulatory DNA to dissect and reprogram gene expression

Martyn, Gabriella E. ^{1, 2, 17}, Montgomery, Michael T. ^{1, 2, 17}, Jones, Hank ^{1, 2}, Guo, Katherine ^{1, 2}, Doughty, Benjamin R. ¹, Linder, Johannes ³, Bisht, Deepa ^{4, 5, 6}, Xia, Fan ^{1, 2}, Cai, Xiangmeng S. ^{1, 2, 7}, Chen, Ziwei ⁸, Cochran, Kelly ⁸, Lawrence, Kathryn A. ¹, Munson, Glen ^{9, 10}, Pampari, Anusri ⁸, Fulco, Charles P. ^{11, 18}, Sahni, Nidhi ^{6, 12, 13}, Kelley, David R. ³, Lander, Eric S. ^{11, 14, 15}, Kundaje, Anshul ^{1, 8}, Engreitz, Jesse M. ^{1, 2, 9, 10, 16, 19, ∗}

Cardiovascular disease-associated non-coding variants disrupt GATA4-DNA binding and regulatory functions

Peña-Martínez, Edwin G. ^{1, 4, ∗}, Messon-Bird, Jean L. ^{1, 4}, Rodríguez-Ríos, Jessica M. ¹, Velázquez-Roig, Rosalba ¹, Pomales-Matos, Diego A. ¹, Rivera-Madera, Alejandro ², Sanabria-Alberto, Leandro ¹, Barreiro-Rosario, Adriana C. ¹, Figueroa-Rosado, Juan A. ³, Rivera-Del Valle, Jeancarlos ¹, Muñoz-Páez, Nicole E. ¹, Peterson-Peguero, Esther A. ¹, Rodríguez-Martínez, José A. ^{1, 5, ∗∗}

LNC-ing Genetics in Mitochondrial Disease

Rick Kamps, Emma Louise Robinson

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Identification of functional enhancer variants associated with type I diabetes in CD4+ T cells

Arpit Mishra, Ajay Jajodia, Eryn Weston, Naresh Doni Jayavelu, Mariana Garcia, Daniel Hossack, R. David Hawkins

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Non-coding variants in VAMP2 and SNAP25 affect gene expression: potential implications in migraine susceptibility

Daniela Felício, Andreia Dias, Sandra Martins, Estefânia Carvalho, Alexandra M. Lopes, Nádia Pinto, Carolina Lemos, Mariana Santos, Miguel Alves-Ferreira

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Systematic investigation of allelic regulatory activity of schizophrenia-associated common variants

Jessica C. McAfee, Sool Lee, Jiseok Lee, Jessica L. Bell, Oleh Krupa, Jessica Davis, Kimberly Insigne, Marielle L. Bond, Nanxiang Zhao, Alan P. Boyle, Douglas H. Phanstiel, Michael I. Love, Jason L. Stein, W. Brad Ruzicka, Jose Davila-Velderrain, Sriram Kosuri, Hyejung Won

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Diverse functions associate with non-coding polymorphisms shared between humans and chimpanzees

Keila Velazquez-Arcelay, Mary Lauren Benton, John A. Capra

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Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases

Edwin G. Peña-Martínez, José A. Rodríguez-Martínez

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Novel sequencing technologies and bioinformatic tools for deciphering the non-coding genome

Schwarz, Jana Marie^{j_medgen-2021-2072_aff_002}, Lüpken, Richard^{j_medgen-2021-2072_aff_003}, Seelow, Dominik^{j_medgen-2021-2072_aff_005}, Kehr, Birte^{j_medgen-2021-2072_aff_007}

The missing link between genetic association and regulatory function

Noah J Connally, Sumaiya Nazeen, Daniel Lee, Huwenbo Shi, John Stamatoyannopoulos, Sung Chun, Chris Cotsapas, Christopher A Cassa, Shamil R Sunyaev

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

Hao Jia, Sung-Joon Park, Kenta Nakai

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

Gloriia Novikova, Shea J. Andrews, Alan E. Renton, Edoardo Marcora

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

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

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Editorial: Deciphering Non-Coding Regulatory Variants: Computational and Functional Validation

Li Chen, Mulin Jun Li

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