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21 results for “variant annotation”
Example variant files and corresponding annotations for GnomAD v3.1.1 on a subset of chromosome 22
<p>Example variant files and corresponding hg38 annotations for `chr22:15518158-20127355`.</p> <p>Sources:</p> <ul> <li><a href="http://dx.doi.org/10.1093/nar/gky955">Gencode v34 (hg38)</a></li> <li><a href="https://doi.org/10.1038/s41586-020-2308-7">GnomAD v3.1.1</a></li> </ul>
spindle cell variant diffuse large B-cell lymphoma (NGS annotation file; high confidence calls) hematolrep-2136295
<p>Diffuse large B-cell lymphoma with spindle cell morphology is a rare variant. We present the case of a 74-year-old male who initially presented with a right supraclavicular (lymph) node enlargement. Histological analysis showed a proliferation of spindle-shaped cells with narrow cytoplasms. An immunohistochemical panel was used to exclude other tumors, such as melanoma, carcinoma, and sarcoma. The lymphoma was characterized by a cell-of-origin subtype of germinal center B-cell-like (GCB) based on Hans’ classifier (CD10-negative, BCL6-positive, and MUM1-negative); EBER negativity, and the absence of BCL2, BCL6, and MYC rearrangements. Mutational profiling using a custom panel of 168 genes associated with aggressive B-cell lymphomas confirmed mutations in ACTB, ARID1B, DUSP2, DTX1, HLA-B, PTEN, and TNFRSF14. Based on the LymphGen 1.0 classification tool, this case had an ST2 subtype prediction. The immune microenvironment was characterized by moderate infiltration of M2-like tumor-associated macrophages (TMAs) with positivity of CD163, CSF1R, CD85A (LILRB3), and PD-L1; moderate PD-1 positive T cells, and low FOXP3 regulatory T lymphocytes (Tregs). Immunohistochemical expression of PTX3 and TNFRSF14 was absent. Interestingly, the lymphoma cells were positive for HLA-DP-DR, IL-10, and RGS1, which are markers associated with poor prognosis in DLBCL. The patient was treated with R-CHOP therapy, and achieved a metabolically complete response.</p> <p>Carreras J, Kikuti YY, Miyaoka M, Hiraiwa S, Tomita S, Ikoma H, Kondo Y, Ito A, Nagase S, Miura H, Roncador G, Colomo L, Hamoudi R, Campo E, Nakamura N. Mutational Profile and Pathological Features of a Case of Interleukin-10 and RGS1-Positive Spindle Cell Variant Diffuse Large B-Cell Lymphoma. <em>Hematology Reports</em>. 2023; 15(1):188-200. https://doi.org/10.3390/hematolrep15010020</p>
Annotated and classified variants from patients with MDS/AML detected in seven public datasets
<p>990 unique validated variants from patients with MDS/AML detected in seven public datasets (https://www.ncbi.nlm.nih.gov/bioproject/PRJNA388411). Databases and web services were accessed for variant annotation and classification on September 7, 2020.</p>
Filtered and annotated SNV and indel variants in the PC3 and LNCaP human prostate cancer cell lines
<p>150bp paired-end reads (insert size 350bp) were obtained using the Illumina HiSeqX sequencer. Samtools v1.3.1 mpileup and bcftools were used to interrogate indexed BAM files, from whole-genome reads aligned to human reference genome GRCh38 build 82, and generate a VCF (Variant Call Format) file of single nucleotide variants (SNVs) and short indel variants. Variants private, or unique to a particular cell line, or shared by both were next identified. Variants (likely to be common germline variants) present in HapMap, 1000 genomes phase 3 (2,504 human genomes), and the National Heart Lung and Blood Institute’s Exome Sequencing Project (ESP) (bundled variant data file available at https://goo.gl/mEogvD) were excluded. Variant files (VCF) were filtered using SnpSift with the following parameters: 'QUAL \textgreater= 200 \&\& DP \textgreater= 30', where QUAL denotes minimum variance confidence and DP total depth threshold. Filtered variants were annotated using SnpEff v4.3g. Please see https://github.com/sciseim/PCaWGS for associated scripts.</p> <p> </p>
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes
<p>Supplementary Tables and Supplementary Methods for the research article "Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes" published in Database.</p>
Data accompanying MetaChrom and "Annotating functional effects of non-coding variants in neuropsychiatric cell types by Deep Transfer Learning"
<p>This is the data accompanying the paper " Annotating functional effects of non-coding variants in neuropsychiatric cell types by Deep Transfer Learning" and the GitHub repository https://github.com/bl-2633/MetaChrom. </p> <p><strong>/data/bed_files/ </strong>contains the unprocessed bed file used in analysis</p> <p><strong>/data/seq_data/</strong> contains processed data from the bed files with corresponding partition and labels for each sequence segment.</p> <p><strong>/trained_model/MetaChrom_model/</strong> contains the pre-trained MetaChrom model on neural developmental context</p> <p><strong>/trained_models/MetaFeat_model/ </strong>contains the MetaFeat model used in training</p> <p><strong>/tool/</strong> contains files and software necessary for the processing pipeline.</p>
Data for: Raw count data, transcribed variant count data, and reference genomic annotation files for Boocock et al. 2024
<p>Expression quantitative trait loci (eQTLs) provide a key bridge between noncoding DNA sequence variants and organismal traits. The effects of eQTLs can differ among tissues, cell types, and cellular states, but these differences are obscured by gene expression measurements in bulk populations. We developed a one-pot approach to map eQTLs in <em>Saccharomyces cerevisiae</em> by single-cell RNA sequencing (scRNA-seq) and applied it to over 100,000 single cells from three crosses. We used scRNA-seq data to genotype each cell, measure gene expression, and classify the cells by cell-cycle stage. We mapped thousands of local and distant eQTLs and identified interactions between eQTL effects and cell-cycle stages. We took advantage of single-cell expression information to identify hundreds of genes with allele-specific effects on expression noise. We used cell-cycle stage classification to map 20 loci that influence cell-cycle progression. One of these loci influenced the expression of genes involved in the mating response. We showed that the effects of this locus arise from a common variant (W82R) in the gene <em>GPA1</em>, which encodes a signaling protein that negatively regulates the mating pathway. The 82R allele increases mating efficiency at the cost of slower cell-cycle progression and is associated with a higher rate of outcrossing in nature. Our results provide a more granular picture of the effects of genetic variants on gene expression and downstream traits.</p>
GCK variants and their annotations for "Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes"
<p>This file provides annoatations for GCK variants as dsecribed in "Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes"</p>
IDSL.CSA spectra annotation table for unique CSA variants of ST001000 - against public MS/MS databases
<p>IDSL.CSA spectra annotation table for unique CSA variants of ST001000 - against public MS/MS databases</p>
Annotated missense variants (hg38) for LoGoFunc prediction
<p>Annotated missense variants (hg38) for LoGoFunc prediction. Academic use only. For commercial use contact Yuval Itan</p>
Data for: Raw count data, transcribed variant count data, and reference genomic annotation files for Boocock et al. 2024
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Massively parallel identification of cis-regulatory variants in yeast promoters - Annotation runs
GEO Series GSE155942. Escherichia coli. 2 samples. Type: Other.
Massively parallel reporter assays with multi-layer annotation identified cell-type-specific functional variants and genes associated with melanoma (MPRA)
GEO Series GSE210354. Homo sapiens. 16 samples. Type: Other.
Mapping genetic effects on cell type-specific chromatin accessibility and annotating complex trait variants using single nucleus ATAC-seq
GEO Series GSE199253. Homo sapiens. 7 samples. Type: Genome binding/occupancy profiling by high throughput sequencing; Third-party reanalysis.
Functional annotation of genetic variants using locally haploid human pluripotent stem cells
GEO Series GSE233683. Homo sapiens. 63 samples. Type: Other.
MiRLog and dbmiR: prioritization and functional annotation tools to study human microRNA sequence variants
<p>dbmiR is a comprehensive database for functional annotation of miRNA SNVs (Single Nucleotide Variants). It includes a precompiled list of all possible miRNA allelic SNVs, providing their biological annotations at nucleotide and miRNA levels. In dbmiR we also integrated MiRLog, a new meta-predictor we implemented to predict the functional effect of miRNA SNVs.</p> <p>dbmiR can be used only for non-commercial purposes because of the licenses associated with some of the included tools and databases.</p>
Massively parallel reporter assays with multi-layer annotation identified cell-type-specific functional variants and genes associated with melanoma (RNA-Seq)
GEO Series GSE210355. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
Massively parallel reporter assays with multi-layer annotation identified cell-type-specific functional variants and genes associated with melanoma
GEO Series GSE210356. Homo sapiens. 22 samples. Type: Expression profiling by high throughput sequencing; Other.
IDSL.CSA Unique CSA variant spectra for known annotations in the ST000923 study
<p>IDSL.CSA Unique CSA variant spectra for known annotations in the ST000923 study</p>
Control iPSC lines with clinically annotated genetic variants for versatile multi-lineage differentiation
GEO Series GSE132012. Homo sapiens. 4 samples. Type: Other.
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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.