Results 91 to 100 of about 188,588 (300)

Comparative Single‐Cell Transcriptomic Atlas Reveals the Genetic Regulation of Reproductive Traits

Advanced Science, EarlyView.
A cross‐species single‐cell transcriptomic atlas of reproductive and central nervous system tissues from sheep and humans reveals conserved cellular programs and regulatory networks that regulated fertility. Integration with GWAS for sheep lifetime average litter size identifies UNC5–SLIT–BMP signaling as a core pathway coordinating neuroendocrine ...
Bingru Zhao, Hanpeng Luo, Dailu Guan, Xuefeng Fu, Feng Wang, Guoming Zhang, Shanglai Li, Hua Yang, Yanli Zhang   +8 more
wiley   +1 more source

Multi‐View Biomedical Foundation Models for Molecule‐Target and Property Prediction

Advanced Science, EarlyView.
Molecular foundation models can provide accurate predictions for a large set of downstream tasks. We develop MMELON, an approach that integrates pre‐trained graph, image, and text foundation models and validate our multi‐view model on over 120 tasks, including GPCR binding.
Parthasarathy Suryanarayanan, Yunguang Qiu, Shreyans Sethi, Diwakar Mahajan, Hongyang Li, Yuxin Yang, Elif Eyigoz, Aldo Guzmán‐Sáenz, Daniel E. Platt, Timothy H. Rumbell, Kenney Ng, Sanjoy Dey, Myson Burch, Bum Chul Kwon, Pablo Meyer, Feixiong Cheng, Jianying Hu, Joseph A. Morrone   +17 more
wiley   +1 more source

Novel ABCD1 and MTHFSD Variants in Taiwanese Bipolar Disorder: A Genetic Association Study

Medicina
Background and Objectives: In recent years, bipolar disorder (BD), a multifaceted mood disorder marked by severe episodic mood fluctuations, has been shown to have an impact on disability-adjusted life years (DALYs).
Yi-Guang Wang, Chih-Chung Huang, Ta-Chuan Yeh, Wan-Ting Chen, Wei-Chou Chang, Ajeet B. Singh, Chin-Bin Yeh, Yi-Jen Hung, Kuo-Sheng Hung, Hsin-An Chang   +9 more
doaj   +1 more source

Multi‐Tissue Genetic Regulation of RNA Editing in Pigs

Advanced Science, EarlyView.
This study presents the first multi‐tissue map of RNA editing and its genetic regulation in pigs. By integrating RNA editing profiles, edQTL mapping, GWAS, and cross‐species comparisons, this work establishes RNA editing as a distinct regulatory layer linking genetic variation to complex traits, highlighting its functional and evolutionary significance.
Xiangchun Pan, Wentao Gong, Xiaodian Cai, Jinyan Teng, Jiali Cai, Haonan Zeng, Wondossen Ayalew, Qingpeng Shen, Zhanming Zhong, Yifei Wang, Wenjing Zhang, Yuhan Tian, Dantong Xu, Yahui Gao, Hongwei Yin, Yuebo Zhang, Jiahui Hou, Tianru Zhou, Jiaqi Li, Lingzhao Fang, Xiaolong Yuan, Zhe Zhang   +21 more
wiley   +1 more source

Approaches to Dissect the Complex Genetic Architecture of Common Traits [PDF]

, 2013
Genome-wide association studies (GWAS) have substantially improved our understanding of the complex genetic architecture of many common traits. For the last decade, more than a thousand genetic variants were discovered using GWAS. The fast development
Struchalin, M.V. (Maksim)
core   +1 more source

Time‐Efficient and Informatic‐Skill‐Light Gap‐Filling for Telomere‐to‐Telomere Genome Assembly

Advanced Science, EarlyView.
The paper introduces a novel auxiliary software toolbox GapSuite, consisting of two tools Gap‐Aid and Gap‐Graph, which guides users to fill gaps in chromosome‐level genome assembly using sequence‐extension‐based and assembly‐graph‐based strategies. The two tools enable users with limited informatics expertise to efficiently complete gap‐filling on ...
Dong Xu, Xianjia Zhao, Lianguang Shang, Shaolong Tian, Yanchun Li, Huaming Wen, Qiang Xu, Dongxi Li, Weihua Pan   +8 more
wiley   +1 more source

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, EarlyView.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

Novel genetic loci affecting facial shape variation in humans

eLife, 2019
The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields.
Ziyi Xiong, Gabriela Dankova, Laurence J Howe, Myoung Keun Lee, Pirro G Hysi, Markus A de Jong, Gu Zhu, Kaustubh Adhikari, Dan Li, Yi Li, Bo Pan, Eleanor Feingold, Mary L Marazita, John R Shaffer, Kerrie McAloney, Shu-Hua Xu, Li Jin, Sijia Wang, Femke MS de Vrij, Bas Lendemeijer, Stephen Richmond, Alexei Zhurov, Sarah Lewis, Gemma C Sharp, Lavinia Paternoster, Holly Thompson, Rolando Gonzalez-Jose, Maria Catira Bortolini, Samuel Canizales-Quinteros, Carla Gallo, Giovanni Poletti, Gabriel Bedoya, Francisco Rothhammer, André G Uitterlinden, M Arfan Ikram, Eppo Wolvius, Steven A Kushner, Tamar EC Nijsten, Robert-Jan TS Palstra, Stefan Boehringer, Sarah E Medland, Kun Tang, Andres Ruiz-Linares, Nicholas G Martin, Timothy D Spector, Evie Stergiakouli, Seth M Weinberg, Fan Liu, Manfred Kayser, On behalf of the International Visible Trait Genetics (VisiGen) Consortium   +49 more
doaj   +1 more source

Genetic Control of Tissue Remodeling by a Non‐Coding SNP in ITGA8 Explains Carotenoid‐Based Color Polymorphism in Marine Mollusks

Advanced Science, EarlyView.
In this study, the orange‐muscle giant abalone (Haliotis gigantea) is used as a model to identify a non‐coding SNP that disrupts the interaction between ITGA8 pre‐mRNA and the splicing factor ILF2, leading to altered ITGA8 splicing. These splicing changes promote carotenoid accumulation in abalone muscle through the regulation of tissue remodeling ...
Xiaohui Wei, Wenzhu Peng, Zekun Huang, Bingye Yang, Yiyu Wu, Minzhen Han, Yi Wang, Bingling Peng, Guosheng Hu, Jiawei Hong, Guijia Liu, Linwei Nie, Yang Gan, Miaoqin Huang, Xuan Luo, Weiwei You, Wen Liu, Caihuan Ke   +17 more
wiley   +1 more source

Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits. [PDF]

, 2019
The cardiac transcription factor (TF) gene NKX2-5 has been associated with electrocardiographic (EKG) traits through genome-wide association studies (GWASs), but the extent to which differential binding of NKX2-5 at common regulatory variants contributes
Benaglio, Paola, D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, DeBoever, Christopher, Donovan, Margaret KR, Drees, Frauke, Frazer, Kelly A, Gaulton, Kyle J, Li, He, Ma, Wubin, Matsui, Hiroko, Rosenfeld, Michael G, Singhal, Sanghamitra, Smith, Erin N, Sotoodehnia, Nona, van Setten, Jessica, Yang, Feng, Young Greenwald, William W   +17 more
core