Results 111 to 120 of about 423,756 (267)

Structural Variants in the Human Genome Associated With Gut Microbiome and Blood Metabolic Traits With Potential Causal Links

open access: yesAdvanced Science, EarlyView.
Based on a multi‐omics cohort of 2002 individuals comprising high‐depth whole‐genome and metagenomic sequencing data, blood metabolites, and detailed questionnaires, we identified 138 859 high‐confidence SVs, uncovering 36 significant SV–microbiome associations and 48 SV–blood metabolite associations.
Qun Zhou   +13 more
wiley   +1 more source

Association of known IBD SNPs.

open access: yes, 2014
“Previously reported SNPs” are those IBD snps added to the design of the ImmunoChip; one per locus is shown here. Since 2 phenotypes were tested for this table (CD and UC) and 100 of the SNPs were not in linkage disequilibrium in Puerto Rico controls ...
Alexandra M. Klomhaus (635315)   +9 more
core   +1 more source

Age‐Related Lamin B1 Deficiency Activates SLC7A11‐Dependent Disulfidptosis to Impair Osteogenesis via Intercepting Mitochondrial Fission

open access: yesAdvanced Science, EarlyView.
This study reveals that age‐related LMNB1 deficiency in mesenchymal stem cells epigenetically upregulates SLC7A11, triggering actin disulfidptosis and mitochondrial dysfunction. This cascade impairs bone formation in senile osteoporosis. Furthermore, researchers identified the FDA‐approved drug naldemedine as a targeted SLC7A11 inhibitor to reverse ...
Wenhui Yu   +12 more
wiley   +1 more source

rSNPBase: a database for curated regulatory SNPs

open access: yes, 2014
In recent years, human regulatory SNPs (rSNPs) have been widely studied. Here, we present database rSNPBase, freely available at http://rsnp.psych.ac.cn/, to provide curated rSNPs that analyses the regulatory features of all SNPs in the human genome with
Chang, Suhua   +4 more
core  

SNPs / Proxy SNPs of the genes of interest.

open access: yes, 2019
SNPs / Proxy SNPs of the genes of interest.
A. Katrina Loomis (188711)   +11 more
core   +1 more source

CRISPR‐Scan: Cas13a Mismatch Tolerance Enabled Ultra‐Multiplexed Detection of Same‐Site Indels in Acute Myeloid Leukemia

open access: yesAdvanced Science, EarlyView.
Accurately detecting diverse same‐locus insertions or deletions (indels) remains challenging. This study reveals the mismatch‐tolerance profile of LwaCas13a and establishes CRISPR‐Scan, which uses a single crRNA to detect multiple same‐locus indels. The one‐pot assay detects nucleophosmin 1 (NPM1) mutant allele frequencies down to 0.01%, agrees with ...
Linlin Bai   +13 more
wiley   +1 more source

Distances between adjacent SNPs.

open access: yes, 2015
Distribution of the distances between adjacent SNPs obtained using the GGRS, the 60K and 600K chicken SNP chips. The x-axis denotes the distances between adjacnt SNPs (kb), and the y-axis denotes the fraction of the total SNPs.
Yingying Tu (434788)   +8 more
core   +1 more source

Gapless Complete Genome and Multi‐Omics Illuminate Immune Adaptation and Host‐Virus Interactions in a Coronavirus Reservoir

open access: yesAdvanced Science, EarlyView.
We present a complete T2T genome assembly for a key bat reservoir. Integrating population genomics, comparative genomics, transcriptomics, single‐cell omics, and functional assays, we resolve previously inaccessible genomic regions and identify evolutionary signatures associated with immune adaptation.
Yuting Wang   +15 more
wiley   +1 more source

An Integrated Framework Coupling Hierarchical Hyperspectral i‐trait Screening, Gene Identification, and Functional Validation for Genetic Dissection of Salt Tolerance in Cotton

open access: yesAdvanced Science, EarlyView.
An integrated phenomics–genomics framework captures dynamic salt‐stress responses in laboratory‐grown cotton seedlings through time‐series hyperspectral imaging and non‐destructive i‐trait extraction. Hierarchical screening identifies biologically relevant, heritable, and non‐redundant traits for high‐resolution GWAS, identifying GhST7.
Bowei Xu   +11 more
wiley   +1 more source

Disease associated SNPs (candSNPs) and coding variant SNPs (cSNPs).

open access: yes, 2013
Disease associated SNPs (candSNPs) and coding variant SNPs (cSNPs).
Hoon Lee (327755)   +12 more
core   +1 more source

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