A functional mechanism for a non-coding variant near AGTR2 associated with risk for preterm birth by Li Wang, Robert M. Rossi, Xiaoting Chen, Jing Chen, Jilian Runyon, Mehak Chawla, Daniel Miller, Carmy Forney, Arthur Lynch, Xuzhe Zhang, Fansheng Kong, Bo Jacobsson, Leah C. Kottyan, Matthew T. Weirauch, Ge Zhang, Louis J. Muglia

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A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia by Romain Nicolle, Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc, Arnold Munnich, Christine Bole-Feysot, Valérie Malan, Barthélémy Caron, Patrick Nitschké, Isabelle Desguerre, Nathalie Boddaert, Marlène Rio, Antonio Rausell, Vincent Cantagrel

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Performance Comparison of Computational Methods for the Prediction of the Function and Pathogenicity of Non-coding Variants by Zheng Wang, Guihu Zhao, Bin Li, Zhenghuan Fang, Qian Chen, Xiaomeng Wang, Tengfei Luo, Yijing Wang, Qiao Zhou, Kuokuo Li, Lu Xia, Yi Zhang, Xun Zhou, Hongxu Pan, Yuwen Zhao, Yige Wang, Lin Wang, Jifeng Guo, Beisha Tang, Kun Xia, Jinchen Li

Subjects: “…Non-coding variant…”
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Computational Assessment of the Expression-modulating Potential for Non-coding Variants by Fang-Yuan Shi, Yu Wang, Dong Huang, Yu Liang, Nan Liang, Xiao-Wei Chen, Ge Gao

Subjects: “…Non-coding variant…”
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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

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A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing by Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker‐Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El‐Khateeb, Rajaa Fathallah, Jean‐Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande‐Beillard, Andreas Mayer, Bruno Reversade

Subjects: “…non‐coding variant…”
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Exploring the frequency of a TP53 polyadenylation signal variant in tumor DNA from patients diagnosed with lung adenocarcinomas, sarcomas and uterine leiomyomas by Igor Araujo Vieira, Guilherme Danielski Viola, Eduarda Heidrich Pezzi, Thayne Woycinck Kowalski, Bruna Vieira Fernandes, Tiago Finger Andreis, Natascha Bom, Giulianna Sonnenstrahl, Yasminne Marinho de Araújo Rocha, Bruno da Silveira Corrêa, Luiza Mezzomo Donatti, Gabriela dos Santos Sant’Anna, Helena von Eye Corleta, Ilma Simoni Brum, Clévia Rosset, Fernanda Sales Luiz Vianna, Gabriel S. Macedo, Edenir Inez Palmero, Patricia Ashton-Prolla

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Intronic variants in inborn errors of metabolism: Beyond the exome by Ashley Hertzog, Ashley Hertzog, Arthavan Selvanathan, Elizabeth Farnsworth, Michel Tchan, Louisa Adams, Katherine Lewis, Adviye Ayper Tolun, Adviye Ayper Tolun, Bruce Bennetts, Bruce Bennetts, Gladys Ho, Gladys Ho, Kaustuv Bhattacharya, Kaustuv Bhattacharya

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The TMEM106B T186S coding variant increases neurite arborization and synaptic density in primary hippocampal neurons by Quynh Nguyen, Caleb A. Wood, Peter J. Kim, Joanna L. Jankowsky, Joanna L. Jankowsky

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Polygenic risk score model for renal cell carcinoma in the Korean population and relationship with lifestyle-associated factors by Joo Young Hong, Jang Hee Han, Seung Hwan Jeong, Cheol Kwak, Hyeon Hoe Kim, Chang Wook Jeong

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Editorial: Deciphering Non-Coding Regulatory Variants: Computational and Functional Validation by Li Chen, Li Chen, Mulin Jun Li

Subjects: “…non-coding variants…”
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Using DIVAN to assess disease/trait-associated single nucleotide variants in genome-wide scale by Li Chen, Zhaohui S. Qin

Subjects: “…Non-coding variants…”
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The missing link between genetic association and regulatory function by 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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Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population by Yichuan Liu, Hui-Qi Qu, Jingchun Qu, Xiao Chang, Frank D. Mentch, Kenny Nguyen, Lifeng Tian, Joseph Glessner, Patrick M. A. Sleiman, Hakon Hakonarson

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A semi-supervised deep learning approach for predicting the functional effects of genomic non-coding variations by Hao Jia, Sung-Joon Park, Kenta Nakai

Subjects: “…Non-coding variants…”
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Systematic investigation of allelic regulatory activity of schizophrenia-associated common variants by 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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Associating disease-related genetic variants in intergenic regions to the genes they impact by Geoff Macintyre, Antonio Jimeno Yepes, Cheng Soon Ong, Karin Verspoor

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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 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

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Exome-wide analysis identify multiple variations in olfactory receptor genes (OR12D2 and OR5V1) associated with autism spectrum disorder in Saudi females by Noor B. Almandil, Maram Adnan Alismail, Maram Adnan Alismail, Hind Saleh Alsuwat, Abdulla AlSulaiman, Sayed AbdulAzeez, J. Francis Borgio

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Association Study of TAF1 Variants in Parkinson’s Disease by Qian Zeng, Hongxu Pan, Yuwen Zhao, Yige Wang, Qian Xu, Jieqiong Tan, Xinxiang Yan, Jinchen Li, Jinchen Li, Jinchen Li, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Jifeng Guo, Jifeng Guo, Jifeng Guo, Jifeng Guo, Jifeng Guo

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