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Dataset results
423 results for “t haplotype”
Mechanisms and disease associations of haplotype-dependent allele specific DNA methylation: Methyl-seq data for the identification of hap-ASM
GEO Series GSE79148. Homo sapiens. 13 samples. Type: Methylation profiling by high throughput sequencing.
Mechanisms and disease associations of haplotype-dependent allele specific DNA methylation
GEO Series GSE79262. Homo sapiens. 326 samples. Type: Methylation profiling by genome tiling array; Genome variation profiling by SNP array; Methylation profiling by high throughput sequencing.
An Epigenetic Signature in Peripheral Blood Associated with Neurodegenerative Tauopathy and the Risk-Associated Haplotype on 17q21.31
GEO Series GSE53740. Homo sapiens. 384 samples. Type: Methylation profiling by genome tiling array.
H3K27ac ChIP in stimulated primary CD4 T cells - effect of disease-associated haplotype on 6q23
GEO Series GSE136092. Homo sapiens. 24 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
ChIP-sequencing for histone modifications in primary human hepatocytes from three individuals heterozygous for the T2D risk haplotype at the SLC16A11 locus
GEO Series GSE99301. Homo sapiens. 12 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects
GEO Series GSE48386. Homo sapiens. 4 samples. Type: Genome variation profiling by SNP array; SNP genotyping by SNP array.
Data from: Susceptibility to type 2 diabetes may be modulated by haplotypes in G6PC2, a target of positive selection
Background: The endoplasmic reticulum enzyme glucose-6-phosphatase catalyzes the common terminal reaction in the gluconeogenic/glycogenolytic pathways and plays a central role in glucose homeostasis. In most mammals, different G6PC subunits are encoded by three paralogous genes (G6PC, G6PC2, and G6PC3). Mutations in G6PC and G6PC3 are responsible for human mendelian diseases, whereas variants in G6PC2 are associated with fasting glucose (FG) levels. Results: We analyzed the evolutionary history of G6Pase genes. Results indicated that the three paralogs originated during early vertebrate evolution and that negative selection was the major force shaping diversity at these genes in mammals. Nonetheless, site-wise estimation of evolutionary rates at corresponding sites revealed weak correlations, suggesting that mammalian G6Pases have evolved different structural features over time. We also detected pervasive positive selection at mammalian G6PC2. Most selected residues localize in the C-terminal protein region, where several human variants associated with FG levels also map. This region was re-sequenced in ~560 subjects from Saudi Arabia, 185 of whom suffering from type 2 diabetes (T2D). The frequency of rare missense and nonsense variants was not significantly different in T2D and controls. Association analysis with two common missense variants (V219L and S342C) revealed a weak but significant association for both SNPs when analyses were conditioned on rs560887, previously identified in a GWAS for FG. Two haplotypes were significantly associated with T2D with an opposite effect direction. Conclusions: We detected pervasive positive selection at mammalian G6PC2 genes and we suggest that distinct haplotypes at the G6PC2 locus modulate susceptibility to T2D.
Data from: Haplotype-phased synthetic long reads from short-read sequencing
Next-generation DNA sequencing has revolutionized the study of biology. However, the short read lengths of the dominant instruments complicate assembly of complex genomes and haplotype phasing of mixtures of similar sequences. Here we demonstrate a method to reconstruct the sequences of individual nucleic acid molecules up to 11.6 kilobases in length from short (150-bp) reads. We show that our method can construct 99.97%-accurate synthetic reads from bacterial, plant, and animal genomic samples, full-length mRNA sequences from human cancer cell lines, and individual HIV env gene variants from a mixture. The preparation of multiple samples can be multiplexed into a single tube, further reducing effort and cost relative to competing approaches. Our approach generates sequencing libraries in three days from less than one microgram of DNA in a single-tube format without custom equipment or specialized expertise.
Fig. 14 in NGS-barcodes, haplotype networks combined to external morphology help to identify new species in the mangrove genus Ngirhaphium Evenhuis & Grootaert, 2002 (Diptera: Dolichopodidae: Rhaphiinae) in Southeast Asia
Fig. 14. Maximum likelihood tree of Ngirhaphium based on NGS barcodes (COI, 313bp).
Resolving the haplotypes of arbuscular mycorrhizal fungi highlights the role of two nuclear populations in host interactions
<p>This repository contains the annotations, analyses and scripts used to create the figures for the dikaryotic strains of <em>R. irregularis</em> chromosome assemblies.</p>
Human Leukocyte Antigen Class II (DRB1 and DQB1) Alleles and Haplotypes Frequencies in Patients With Pemphigus Vulgaris Among the Russian Population
ClinicalTrials.gov study NCT05284929. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Use of Plasma ctDNA Methylation Haplotypes in Detecting Local Residual or Lymph Node Metastasis
ClinicalTrials.gov study NCT03868215. IPD Sharing: Not stated. Countries: 1. Publications: 0.
ANXA5 M2 Haplotyping in IVF Patients and Embryos
ClinicalTrials.gov study NCT04544462. IPD Sharing: NO. Countries: 1. Publications: 0.
Studyof Allogeneic Hematopoietic Stem Cell Transplantation From One Haplotype Mismatch Related Donor or From an Unrelated Donor in Elderly Patients
ClinicalTrials.gov study NCT02623309. IPD Sharing: Not stated. Countries: 1. Publications: 0.
A Phase I Trial of Alloreactive Cell Infusion Following Transplantation of Haplotype Cells in Patients With Myeloid Malignancies
ClinicalTrials.gov study NCT00569179. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Effect of the SCL16A11 Risk Haplotype on Treatments to Prevent Type 2 Diabetes
ClinicalTrials.gov study NCT05990205. IPD Sharing: YES. Countries: 1. Publications: 0.
The Correlation Between the Haplotype of Human Leukocyte Antigen (HLA) and Human Papillomavirus
ClinicalTrials.gov study NCT00154479. IPD Sharing: Not stated. Countries: 1. Publications: 0.
H2 Haplotype and CYP3As Polymorphisms and the Antiplatelet Response to Clopidogrel
ClinicalTrials.gov study NCT00433784. IPD Sharing: Not stated. Countries: 1. Publications: 0.
The Influence of NPPA/NPPB Haplotype on Natriuretic Peptide Plasma Levels
ClinicalTrials.gov study NCT04327258. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Genetic Mechanism of Conserved Ancestral Haplotype in SCA10
ClinicalTrials.gov study NCT04495426. IPD Sharing: Not stated. Countries: 2. Publications: 0.
ScienceDex guides
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These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.