Results 161 to 170 of about 271,712 (303)

Additional file 1: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

, 2016
Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, D. Bessis, Patricia Bretones, Anne Cavau, B. Digeon, Martine Doco‐Fenzy, Bérénice Doray, François Feillet, Jesús Gardeazábal, Blanca Gener, Sophie Julia, Isabel Llano‐Rivas, Artur Mazur, Caroline Michot, Florence Renaldo-Robin, Massimiliano Rossi, Pascal Sabouraud, Boris Keren, Christel Depienne, Jean Muller, Jean‐Louis Mandel, Vincent Laugel   +28 more
openalex   +1 more source

Additive and Partially Dominant Effects from Genomic Variation Contribute to Rice Heterosis

Advanced Science, EarlyView.
Additive and partially dominant effects, namely at mid‐parent levels or values between mid‐parent and parental levels, respectively, are the predominant inheritance patterns of heterosis‐associated molecules. These two genetic effects contribute to heterosis of agronomic traits in both rice and maize, as well as biomass heterosis in Arabidopsis ...
Zhiwu Dan, Yunping Chen, Wei Zhou, Yanghong Xu, Junran Huang, Yi Chen, Jizhou Meng, Guoxin Yao, Wenchao Huang   +8 more
wiley   +1 more source

Multi‐Tissue Omics Analysis Uncovers Translational Regulation Underlying Complex Traits in Pigs

Advanced Science, EarlyView.
Integrated multi‐omics across pig breeds and tissues reveals key principles of post‐transcriptional translational regulation and their contribution to trait formation. A gene network framework integrating transcriptomic and translatomic data is developed and applied to elucidate the genetic basis of meat production, offering new insights into mammalian
Chao Wang, Yuanyuan Zhang, Choulin Chen, Xiaoxian Xu, Shenghua Qin, Junyan Qi, Yongzhou Bao, Huiming Li, Ruipu Chen, Weigang Zheng, Zhilong Chen, Lingzhao Fang, Yunxiang Zhao, Yuwen Liu   +13 more
wiley   +1 more source

Harnessing Large Language Models to Advance Microbiome Research: From Sequence Analysis to Clinical Applications

Advanced Intelligent Discovery, EarlyView.
Large language models are transforming microbiome research by enabling advanced sequence profiling, functional prediction, and association mining across complex datasets. They automate microbial classification and disease‐state recognition, improving cross‐study integration and clinical diagnostics.
Jieqi Xing, He Wang, Yangyang Sun, Xiaoquan Su, Shunyao Wu   +4 more
wiley   +1 more source

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

Acta Dermato-Venereologica, 2019
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Maria Margollicci, Renata Boldrini, Viola Alesi, Antonio Novelli, Giovanna Zambruno, May El Hachem   +8 more
doaj   +1 more source

A Solution for Exosome‐Based Analysis: Surface‐Enhanced Raman Spectroscopy and Artificial Intelligence

Advanced Intelligent Discovery, EarlyView.
Exosomes are emerging as powerful biomarkers for disease diagnosis and monitoring. This review highlights the integration of surface‐enhanced Raman spectroscopy with artificial intelligence to enhance molecular fingerprinting of exosomes. Machine learning and deep learning techniques improve spectral interpretation, enabling accurate classification of ...
Munevver Akdeniz, Zakarya Al‐Shaebi, Omer Aydin   +2 more
wiley   +1 more source

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea

Orphanet Journal of Rare Diseases
Background Ectodermal dysplasia (ED) is a rare genetic disorder that affects structures derived from the ectodermal germ layer. Results In this study, we analyzed the genetic profiles of 27 Korean patients with ED.
Man Jin Kim, Jee-Soo Lee, Seung Won Chae, Sung Im Cho, Jangsup Moon, Jung Min Ko, Jong-Hee Chae, Moon-Woo Seong   +7 more
doaj   +1 more source

Sampling Strategy: An Overlooked Factor Affecting Artificial Intelligence Prediction Accuracy of Peptides’ Physicochemical Properties

Advanced Intelligent Discovery, EarlyView.
This study reveals that sampling strategy (i.e., sampling size and approach) is a foundational prerequisite for building accurate and generalizable AI models in peptide discovery. Reaching a threshold of 7.5% of the total tetrapeptide sequence space was essential to ensure reliable predictions.
Meiru Yan, Ankeer Abuduhebaier, Haojin Zhou, Jiaqi Wang   +3 more
wiley   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

High-throughput amplicon sequencing of the full-length 16S rRNA gene with single-nucleotide resolution [PDF]

, 2018
Benjamin J. Callahan, Joan Wong, Cheryl Heiner, Steve D. Oh, Casey M. Theriot, Ajay Gulati, Sarah McGill, Michael Dougherty   +7 more
openalex   +1 more source