Results 121 to 130 of about 5,755,630 (299)
Advanced 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
Association of selected single nucleotide polymorphisms with incident myocardial infarction.
, 2016 Association of selected single nucleotide polymorphisms with incident myocardial infarction.
Michael S. Nielsen (2717926) +5 more
core +1 more source
Advanced Science, EarlyView.XChrom is a deep learning framework that integrates genomic sequence and single‐cell context to predict chromatin accessibility. It generalizes to unseen cells and genomic regions, enabling cross‐sample and cross‐species analysis. Applied to COVID‐19 patient data, XChrom reveals key transcriptional regulatory mechanisms and disease‐associated ...
Yuanyuan Miao +5 more
wiley +1 more source
Details of the new single nucleotide polymorphisms (SNPs).
, 2015 * according to build GRCh37.p10Details of the new single nucleotide polymorphisms (SNPs).
A. Inkeri Lokki (695426) +3 more
core +1 more source
American Journal of Botany, EarlyView.Abstract Premise Recent advances in genomic technologies now enable the reconstruction of evolutionary histories at fine spatial scales, illuminating the complex dynamics that shape biodiversity patterns in naturally discontinuous, archipelago‐like ecosystems such as cloud forests.
Leopoldo Hurtado‐Reveles +4 more
wiley +1 more source
Single nucleotide polymorphisms associated with subgroups of CRSwNP and CRSsNP.
, 2013 SNP: Single nucleotide polymorphisms; OR: Odd ratio; P: p-value.*: P value remains significant after Bonferroni correction.
Demin Han (102993) +6 more
core +1 more source
Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh +5 more
wiley +1 more source
Angewandte Chemie, EarlyView.A photoswitchable ligand was used to trigger conformational changes within the thrombin binding aptamer DNA G‐Quadruplex. These reversible ligand driven rearrangements were examined by time‐resolved NMR experiments to gain insight of the dynamic folding landscape of the G‐quadruplex.
Jason Martins +2 more
wiley +2 more sources
Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen +8 more
wiley +1 more source
PLA2R1 and HLA-DQA1 SNP in patients with primary membranous nephropathy.
PLoS ONEBackgroundPrimary membranous nephropathy is a widely recognized autoimmune disease associated with podocyte antigens; the most important autoantigen is PLA2R1. PLA2R1 and HLA-DQA1 play important roles in the production of pathogenic antibodies.
Junyi Zhou +12 more
doaj +1 more source