2,059 results match your criteria: "Beijing Institute of Genomics.[Affiliation]"

Aberrant Somatic Hypermutation at Super-enhancer Drives B Cell Lymphoma Transformation.

Genomics Proteomics Bioinformatics

October 2024

CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation, Beijing 100101, China.

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Article Synopsis
  • Single-cell transcriptome-wide association studies (scTWAS) is a cutting-edge method that enhances gene-trait association analysis by focusing on cellular precision and addressing issues of cell-type diversity inherent in traditional TWAS.
  • The scTWAS Atlas is a new comprehensive database that compiles over 2.7 million gene-trait associations linked to various traits and cell types, featuring tools for data visualization and multi-omics regulatory network construction.
  • This user-friendly platform facilitates in-depth exploration of genetic mechanisms within specific cell types, providing valuable insights for research related to human health and biological processes.
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  • - The study introduces HiRisk-Detector, a machine learning tool designed for the early detection of high-risk SARS-CoV-2 variants, which is crucial for preventing and controlling COVID-19 outbreaks.
  • - HiRisk-Detector analyzed over 7.6 million SARS-CoV-2 genomes, successfully identifying all 13 high-risk variants ahead of World Health Organization announcements by an average of 27 days.
  • - The tool remains effective even with reduced data input and has been validated for identifying risks in Omicron variant sub-lineages, showcasing its strong performance and potential for future public health emergencies.
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  • Rice endosperm is crucial for seed germination and grain yield, yet the role of RNA editing during its development is not well understood.
  • The study investigates the RNA editome in rice endosperm, revealing that most editing occurs in mitochondrial genes and affects protein structure through C-to-U changes.
  • The researchers classify mitochondrial genes based on editing patterns and identify candidate proteins involved in the RNA editing process, enhancing our understanding of endosperm development.
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  • VGLL3 is identified as a key player in the DNA damage response (DDR), which helps cells repair damaged DNA.
  • Decreasing VGLL3 levels leads to reduced repair efficiency, making cells more sensitive to chemotherapy while delaying tumor growth.
  • The study also reveals that VGLL3 stabilizes certain proteins involved in DNA repair by preventing their degradation, highlighting a unique function separate from its role in regulating gene transcription.
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  • Whole-exome sequencing (WES) is essential for cancer diagnosis, but the current reference genome, GRCh38, is being challenged by new telomere-to-telomere genomes, T2T-CHM13 and T2T-YAO.
  • A study of 19 tumor samples from Chinese patients found that T2T-YAO showed about 1% more diversity in exon regions compared to GRCh38, yet it provided 7.41% more mapped reads, indicating better performance.
  • The results suggest using population-specific reference genomes like T2T-YAO is crucial for accurate variant analysis, as it reduces false positive variant calls and improves the identification of pathogenic variants in different ethnic groups.
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Microbiome-induced reprogramming in post-transcriptional landscape using nanopore direct RNA sequencing.

Cell Rep

October 2024

Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China; School of Life Sciences, South China Normal University, Guangzhou 510631, China; University of Chinese Academy of Sciences, Beijing 100049, China. Electronic address:

Article Synopsis
  • The study investigates how the microbiota influences gene expression and physiological functions in mice, focusing on mRNA landscapes in brain and cecum tissues.
  • Using nanopore direct RNA sequencing, it reveals that the microbiome affects RNA modifications, isoform generation, and transcript abundance, demonstrating significant control over post-transcriptional processes.
  • The findings highlight a tissue-specific impact of the microbiome on host gene expression regulation, advancing understanding of microbial contributions to gene expression mechanisms.
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  • The NEOTAX phase 2 study explored how effective and safe the combination of toripalimab and axitinib is for patients with clear cell renal cell carcinoma and inferior vena cava tumor thrombus.
  • Out of 25 patients, 44% showed a reduction in thrombus level, with a median decrease in tumor thrombus length of 2.3 cm, while 61.9% had changes in their surgical approach.
  • The study found promising progression-free survival rates (25.3 months median; 89.1% at 1 year) and noted no severe treatment-related adverse events, suggesting that the combination therapy effectively downstages the tumor and improves surgical outcomes.
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Cardiovascular disease (CVD) is the leading cause of illness and death worldwide. Numerous studies have been conducted into the underlying mechanisms and molecular characteristics of CVD using various omics approaches. However, there is still a need for comprehensive resources on CVD.

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Formaldehyde (FA) is a chemical that facilitates crosslinking between DNA and proteins. It is widely used in various biochemical assays, such as chromosome conformation capture (3C) and Chromatin Immunoprecipitation (ChIP). While the concentration and temperature of FA treatment are recognized as crucial factors in crosslinking, their quantitative effects have largely remained unexplored.

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Background: Physical activity can regulate and affect gene expression in multiple tissues and cells. Recently, with the development of next-generation sequencing, a large number of RNA-sequencing (RNA-seq)-based gene expression profiles about physical activity have been shared in public resources; however, they are poorly curated and underutilized. To tackle this problem, we developed a data atlas of such data through comprehensive data collection, curation, and organization.

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Background: Heterologous booster vaccines are more effective than homologous booster vaccines in combating the coronavirus disease 2019 (COVID-19) outbreak. However, our understanding of homologous and heterologous booster vaccines for COVID-19 remains limited.

Methods: We recruited 34 healthy participants from two cohorts who were primed with two-dose inactivated COVID-19 vaccine before, vaccinated with COVID-19 inactivated vaccine and adenovirus-vectored vaccine (intramuscular and aerosol inhalation of Ad5-nCoV) as a third booster dose.

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Identify Non-mutational p53 Functional Deficiency in Human Cancers.

Genomics Proteomics Bioinformatics

December 2024

Division of Computational Biology, Mayo Clinic College of Medicine and Science, Rochester, MN 55905, USA.

An accurate assessment of p53's functional statuses is critical for cancer genomic medicine. However, there is a significant challenge in identifying tumors with non-mutational p53 inactivation which is not detectable through DNA sequencing. These undetected cases are often misclassified as p53-normal, leading to inaccurate prognosis and downstream association analyses.

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Identifying soft selective sweeps using genomic data is a challenging yet crucial task in population genetics. In this study, we present HaploSweep, a novel method for detecting and categorizing soft and hard selective sweeps based on haplotype structure. Through simulations spanning a broad range of selection intensities, softness levels, and demographic histories, we demonstrate that HaploSweep outperforms iHS, nSL, and H12 in detecting soft sweeps.

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Background: Preoperative risk stratification is significant for the management of endometrial cancer (EC) patients. Radiomics based on magnetic resonance imaging (MRI) in combination with clinical features may be useful to predict the risk grade of EC.

Aim: To construct machine learning models to predict preoperative risk stratification of patients with EC based on radiomics features extracted from MRI.

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Metformin decelerates aging clock in male monkeys.

Cell

October 2024

Key Laboratory of Organ Regeneration and Reconstruction, State Key Laboratory of Membrane Biology, State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China; Institute for Stem Cell and Regeneration, CAS, Beijing 100101, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing 100101, China; National Clinical Research Center for Geriatric Disorders, Aging Translational Medicine Center, International Center for Aging and Cancer, Xuanwu Hospital Capital Medical University, Beijing 100053, China; University of Chinese Academy of Sciences, Beijing 100049, China; Aging Biomarker Consortium (ABC), Beijing 100101, China. Electronic address:

Article Synopsis
  • * Metformin was found to significantly slow aging markers, resulting in about a 6-year regression in brain aging and improved cognitive function.
  • * The research suggests that metformin's benefits on brain health are partly due to the activation of Nrf2, which has anti-oxidative properties, indicating potential for human aging interventions.
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CRISPR screening uncovers nucleolar RPL22 as a heterochromatin destabilizer and senescence driver.

Nucleic Acids Res

October 2024

State Key Laboratory of Membrane Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China.

Dysfunction of the ribosome manifests during cellular senescence and contributes to tissue aging, functional decline, and development of aging-related disorders in ways that have remained enigmatic. Here, we conducted a comprehensive CRISPR-based loss-of-function (LOF) screen of ribosome-associated genes (RAGs) in human mesenchymal progenitor cells (hMPCs). Through this approach, we identified ribosomal protein L22 (RPL22) as the foremost RAG whose deficiency mitigates the effects of cellular senescence.

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Comprehensive assessment of long-read sequencing platforms and calling algorithms for detection of copy number variation.

Brief Bioinform

July 2024

National Genomics Data Center, China National Center for Bioinformation, Beichen West Road, Chaoyang District, Beijing 100101, China.

Copy number variations (CNVs) play pivotal roles in disease susceptibility and have been intensively investigated in human disease studies. Long-read sequencing technologies offer opportunities for comprehensive structural variation (SV) detection, and numerous methodologies have been developed recently. Consequently, there is a pressing need to assess these methods and aid researchers in selecting appropriate techniques for CNV detection using long-read sequencing.

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Background: The rarity of primary central nervous system lymphoma (PCNSL) and treatment heterogeneity contributes to a lack of prognostic models for evaluating posttreatment remission. This study aimed to develop and validate radiomic-based models to predict the durable response (DR) to high-dose methotrexate (HD-MTX)-based chemotherapy in PCNSL patients.

Methods: A total of 159 patients pathologically diagnosed with PCNSL between 2011 and 2021 across two institutions were enrolled.

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Periodontitis prevalence and acceleration of biological aging: Insights from NHANES 2009-2014 and Mendelian randomization study.

J Periodontal Res

September 2024

Key Laboratory of Dental Material, National Medical Products Administration, Beijing, China.

Aim: This study aimed to investigate the association of periodontitis with biological aging and to assess potential causality using Mendelian randomization (MR).

Methods: A cross-sectional study with 9558 participants from the National Health and Nutrition Examination Survey (2009-2014) was conducted. Age acceleration (BioAgeAccel and PhenoAgeAccel) was calculated from clinical biomarkers and their discrepancies with chronological age.

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Female sexual receptivity is essential for reproduction of a species. Neuropeptides play the main role in regulating female receptivity. However, whether neuropeptides regulate female sexual receptivity during the neurodevelopment is unknown.

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The inversion of substrate size specificity is an evolutionary roadblock for proteins. The Duf4243 dioxygenases GedK and BTG13 are known to catalyze the aromatic cleavage of bulky tricyclic hydroquinone. In this study, we discover a Duf4243 dioxygenase PaD that favors small monocyclic hydroquinones from the penicillic-acid biosynthetic pathway.

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Laws of Genome Nucleotide Composition.

Genomics Proteomics Bioinformatics

October 2024

National Genomics Data Center, China National Center for Bioinformation, Beijing 100101, China.

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