Results 121 to 130 of about 23,427,651 (311)

Exhaustive search of the SNP-SNP interactome identifies epistatic effects on brain volume in two cohorts [PDF]

open access: yes, 2013
The SNP-SNP interactome has rarely been explored in the context of neuroimaging genetics mainly due to the complexity of conducting ∼10 11 pairwise statistical tests.
Nicholas G. Martin   +45 more
core   +2 more sources

CausalCellInfer: Prioritizing Cell‐Type‐Specific Disease Associations From Genetically Predicted Transcriptomes in Biobank Cohorts

open access: yesAdvanced Science, EarlyView.
Bulk and genotype‐imputed transcriptomes obscure the cellular drivers of complex disease. CausalCellInfer resolves them by integrating invariant marker selection, deep learning deconvolution, and regularized matrix completion. Applied to ∼500 000 UK Biobank participants across 29 traits, it uncovers hallmark cell‐type proportion shifts, including ...
Liangying Yin   +6 more
wiley   +1 more source

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

Analysis of snp-snp Interactions among rs3825214, rs7312625 and rs8830799 and Their Association with AF.

open access: yes, 2016
Analysis of snp-snp Interactions among rs3825214, rs7312625 and rs8830799 and Their Association with AF.
Xiaochen Tian (585595)   +7 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

SNP-specific genotype frequencies for cases (YWC) and controls (CGEMS).

open access: yes, 2019
SNP-specific genotype frequencies for cases (YWC) and controls (CGEMS).
Bryce G. Larson (6733730)   +20 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

ngs-snp-pipeline-v3.2

open access: yes, 2012
nuclear locus assembly and SNP discovery pipeline R ...
Peter H. Dutton (163010)   +11 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

Genetic susceptibility of IKZF1, ARID5B, and CEBPE polymorphisms to childhood acute lymphoblastic leukemia in Chinese populations: a case-control study

open access: yesGlobal Medical Genetics
Objective: This study aimed to evaluate the association of single nucleotide polymorphisms (SNPs) in IKZF1, ARID5B, and CEBPE with acute lymphoblastic leukemia (ALL) susceptibility in Chinese children.
Xiaoqing Cao   +6 more
doaj   +1 more source

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