Results 61 to 70 of about 98,982 (312)

Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE)

BMC Medical Genomics, 2020
Background ‘Precision oncology’ can ensure the best suitable treatment at the right time by tailoring treatment towards individual patient and comprehensive tumour characteristics.
Kris G. Samsom, Linda J. W. Bosch, Luuk J. Schipper, Paul Roepman, Ewart de Bruijn, Louisa R. Hoes, Immy Riethorst, Lieke Schoenmaker, Lizet E. van der Kolk, Valesca P. Retèl, Geert W. J. Frederix, Tineke E. Buffart, Jacobus J. M. van der Hoeven, Emile E. Voest, Edwin Cuppen, Kim Monkhorst, Gerrit A. Meijer   +16 more
doaj   +1 more source

Whole Genome Sequencing Contributions and Challenges in Disease Reduction Focused on Malaria

Biology, 2022
Malaria elimination remains an important goal that requires the adoption of sophisticated science and management strategies in the era of the COVID-19 pandemic.
Olusegun Philip Akoniyon, Taiye Samson Adewumi, Leah Maharaj, Olukunle Olugbenle Oyegoke, Alexandra Roux, Matthew A. Adeleke, Rajendra Maharaj, Moses Okpeku   +7 more
doaj   +1 more source

Integrative Omics Analysis Reveals the Regulation of Hypoxia Tolerance in Large Yellow Croaker (Larimichthys crocea) via the Lipoic Acid Synthase (lias) Gene

Advanced Science, EarlyView.
Lipoic acid synthase (lias) can regulate α‐KG levels through lipoylation, thereby negatively regulating HIF‐1α protein levels via PHD under hypoixa. The Hap2 allele of lias exhibits lower expression levels than Hap1, leading to the accumulation of more HIF‐1α protein and thereby enhancing hypoxia tolerance. ABSTRACT Hypoxia stress seriously affects the
Jie Ding, Songpeng Jia, Ran Meng, Xuelei Wang, Xiongfei Wu, Weiliang Shen, Yibo Zhang, Junquan Zhu   +7 more
wiley   +1 more source

GT-WGS: an efficient and economic tool for large-scale WGS analyses based on the AWS cloud service

BMC Genomics, 2018
Background Whole-genome sequencing (WGS) plays an increasingly important role in clinical practice and public health. Due to the big data size, WGS data analysis is usually compute-intensive and IO-intensive.
Yiqi Wang, Gen Li, Mark Ma, Fazhong He, Zhuo Song, Wei Zhang, Chengkun Wu   +6 more
doaj   +1 more source

Whole‐Genome Sequencing Pilot of the Central Asian Genomic Diversity Project Reveals Distinct Histories, Adaptation, and Introgression

Advanced Science, EarlyView.
As a pilot phase of the Central Asian Genomic Diversity Project, whole‐genome sequencing of 166 individuals from 20 Central Asian and Afghan Hazara populations reveals fine‐scale substructure shaped by repeated trans‐Eurasian migration and admixture. Integrated analyses uncover post‐admixture adaptation, archaic introgression, and medically relevant ...
Mengge Wang, Shuhan Duan, Qiuxia Sun, Renkuan Tang, Lintao Luo, Jie Zhong, Zhaxylyk Sabitov, CAGDP Consortium†, Lan‐Hai Wei, Chao Liu, Maxat Zhabagin, Guanglin He   +11 more
wiley   +1 more source

Compound heterozygosity as a cause of diagnostic difficulties in patients with hereditary diseases

Acta Biomedica Scientifica
Background. Up to 40 % of patients with suspected monogenic disorders remain undiagnosed when using targeted gene panels or exome sequencing, particularly in cases of compound heterozygosity where one pathogenic variant goes undetected.The aim.
M. E. Lobanov, O. I. Gumenyuk, Yu. V. Chernenkov, O. S. Groznova, Z. G. Afaunova, P. D. Polyakova, M. A. Sukhanova, R. A. Kapyov, D. N. Shemirzov, L. M. Shipilova   +9 more
doaj   +1 more source

Evaluating the clinical impact of routine whole genome sequencing in tuberculosis treatment decisions and the issue of isoniazid mono-resistance

BMC Infectious Diseases, 2022
Background The UK has implemented routine use of whole genome sequencing (WGS) in TB diagnostics. The WHO recommends addition of a fluoroquinolone for isoniazid mono-resistance, so early detection may be of use.
Mirae Park, Ajit Lalvani, Giovanni Satta, Onn Min Kon   +3 more
doaj   +1 more source

Multi‐tissue Metabolic GWAS and Drought‐Responsive Multi‐omics Reveal the Genetic Basis of the Quinoa Metabolome

Advanced Science, EarlyView.
A multi‐omics framework combining multitissue genome‐wide association studies, metabolomics, transcriptomics, proteomics, and functional validation uncovers the genetic basis of specialized metabolism in quinoa. The study identifies hundreds of metabolite‐associated loci, prioritizes candidate genes for saponin, betalain, and flavonoid biosynthesis ...
Julia von Steimker, Elodie L. Rey, Clara Stanschewski, Regina Wendenburg, Annabella Klemmer, Markéta Macho, Venkatesh P. Thirumalaikumar, Noha O. Saber, Aleksandra Skirycz, Alisdair R. Fernie, Mark Tester, Saleh Alseekh   +11 more
wiley   +1 more source

Public attitudes in Japan toward participation in whole genome sequencing studies

Human Genomics, 2018
Background Recent innovations in gene analysis technology have allowed for rapid and inexpensive sequencing of entire genomes. Thus, both conducting a study using whole genome sequencing (WGS) in a large population and the clinical application of ...
Taketoshi Okita, Noriko Ohashi, Daijiro Kabata, Ayumi Shintani, Kazuto Kato   +4 more
doaj   +1 more source

Risk of Inflammatory Bowel Disease Following Hospital‐Treated Infections and Modulatory Role of Host Genetics to Support a Multi‐Hit Pathogenesis Model

Advanced Science, EarlyView.
Hospital‐treated infections are linked to increased risk of inflammatory bowel disease in a large prospective cohort. This risk differs by infection burden, time since infection, and host immune‐genetic susceptibility. The findings support a multi‐hit pathogenesis model in which severe infection and inherited susceptibility jointly shape inflammatory ...
Haiming Zhuang, Lintao Dan, Xin Xiang, Xixian Ruan, Shuai Yuan, Jialu Yao, Jiawei Geng, Jonas F. Ludvigsson, Tian Fu, Candida Abreu, Laurent Peyrin‐Biroulet, Xue Li, Yi Xiao, Fernando Magro, Xiaoyan Wang, Jing Sun, Jie Chen   +16 more
wiley   +1 more source