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Research on genetic variant characteristics in ADME genes based on whole-exome sequencing in the Han Chinese population.
Eur J Pharm Sci
February 2025
Center of Clinical Pharmacology, the Third Xiangya Hospital, Central South University, China. Electronic address:
Background: Genetic variants in absorption, distribution, metabolism, and excretion (ADME) genes affect drug efficacy and side effects. Whole-exome sequencing (WES) effectively identifies these variants. Findings from Western populations may not apply to the Han Chinese population due to ethnic differences.
View Article and Find Full Text PDFPresence of Rare Variants is Associated with Poorer Survival in Chinese Patients with Amyotrophic Lateral Sclerosis.
Phenomics
April 2023
Department of Neurology, Huashan Hospital and Institute of Neurology, Fudan University, Shanghai, 200040 China.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with phenotypic and genetic heterogeneity. Recent studies have suggested an oligogenic basis of ALS, in which the co-occurrence of two or more genetic variants has additive or synergistic deleterious effects. To assess the contribution of possible oligogenic inheritance, we profiled a panel of 43 relevant genes in 57 sporadic ALS (sALS) patients and eight familial ALS (fALS) patients from five pedigrees in east China.
View Article and Find Full Text PDF[Susceptibility study on the germline rare variants of bromodomain and extraterminal domain protein family-encoding genes and patients with cancer living in some regions of China].
Zhonghua Yi Xue Za Zhi
November 2022
School of Basic Medicine, Anhui Medical University, Hefei 230032, China.
To explore the relationship between germline rare variants of bromodomain and extraterminal domain (BET) protein family-encoding genes and susceptibility to cancer in some regions of China. Capturing probes were designed for bromodomain-containing protein 2 (BRD2), BRD3 and BRD4 genes, and Illumina high-throughput sequencing platform was used to conduct targeted sequencing of genomic DNA of peripheral blood leukocytes from 1 673 patients with cancer and 1 661 individuals without cancer recruited between October 2015 and July 2018 from Chinese PLA General Hospital, the Second Affiliated Hospital of Guangxi Medical University, People's Hospital of Macheng City, Hubei Province and Geneplus-Beijing Co. Ltd.
View Article and Find Full Text PDFThe HuaBiao project: whole-exome sequencing of 5000 Han Chinese individuals.
J Genet Genomics
November 2021
State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, Human Phenome Institute, Fudan University, Shanghai 200433, China; Taizhou Institute of Health and Sciences, Fudan University, Taizhou, Jiangsu 225300, China. Electronic address:
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