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1,145 results for “somatic”
Processed Somatic Genomic Variants - Mutect2 Pipeline
The raw data is contributed by Johns Hopkins University researchers funded by the Neurofibromatosis Therapeutic Acceleration Program (NTAP). The reprocessing of the raw data is managed by the NF Open Science Initiative (NF Data Portal).
Gabriella Miller Kids First Pediatric Research Program in Germline and Somatic Variants in Myeloid Malignancies in Children
This project aims to sequence an unparalleled number of cases of de novo Acute Myeloid Leukemia (AML) and Down Syndrome AML (DS-AML), to establish a database comprised of genomic and transcriptome information which can be interrogated for both somatic and germline variants. Identification of the somatic variants will provide valuable data on the potential genes and pathways that can be targeted for therapeutic purposes. In addition, interrogation of the host's constitutional genome may yield valuable information about potential germline variants that, in combination with the somatic data, might provide a more informed approach to patient care. For those patients with predisposition mutations, chemotherapy alone might not be adequate for cure, and stem cell transplantation might be required. Also, those who might be at high risk of adverse secondary events (cardiac complications, secondary malignancies, etc.) can be identified early and their therapy can be tailored to minimize anticipated complications. Thus, we propose that the optimum outcome can only be obtained through comprehensive interrogation of the somatic and germline genomes to fully annotate the genomic makeup of the leukemia and its host. Knowing the genomic and transcriptomic makeup of these patients, along with a full complement of clinical characteristics for this cohort, will be critical for making strong correlations which may aid in therapeutic development for future patients. The de novo AML, DS-AML, and Acute Promyelocytic Leukemia (APL) cases were all collected through clinical protocols conducted by the Children's Oncology Group (COG). In addition to funding from the Gabriella Miller Kids First Pediatric Research Program, the DS-AML cohort was specifically funded by the Lifespan to Understand Down syndrome (INCLUDE) Project.
Gabriella Miller Kids First Pediatric Research Program in Germline and Somatic Variants in Myeloid Malignancies in Children
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Alexithymia, resilience, somatic sensations and their relationships with suicide ideation in drug naïve patients with first-episode major depression: An exploratory study in the "real world" everyday clinical practice
<p>Alexithymia, resilience, somatic sensations and their<br> relationships with suicide ideation in drug naïve patients<br> with first-episode major depression: An exploratory study<br> in the “real world” everyday clinical practice</p> <p> </p> <p>Aim: The present study is aimed at revaluating alexithymia, somatic sensations, resilience<br> and their relationships with suicide ideation in drug naïve adult outpatients suffering<br> from first episode major depression (MD).<br> Methods: Data of 103 adult outpatients (49 men, 56 women) with a diagnostic and<br> statistical manual of mental disorders, 4th edition, text revision (DSM-IV-TR) diagnosis<br> of MD were analysed. Alexithymia was measured using the 20-item Toronto<br> Alexithymia Scale (TAS-20) and resilience with the 25 items Connor-Davidson Resilience<br> Scale (CD-RISC) whereas depression was evaluated using the 17-item Hamilton<br> Depression Rating Scale, somatic sensations with the Body Sensations Questionnaire<br> and suicide ideation with Scale of Suicide Ideation (SSI).</p> <p>Results: Gender comparisons between all demographic and clinical variables showed<br> no significant differences in all variables. Subjects who were found positive for<br> alexithymia showed higher scores on all clinical variables controlling for age, gender<br> and duration of the current episode. In a linear regression model, lower scores on<br> CD-RISC and Difficulty in Identifying Feelings dimension of TAS-20 were significantly<br> predictive of higher scores on SSI.<br> Conclusions: Alexithymia and low resilience were significant predictors of increased<br> suicide ideation in a first MD episode. However, study limitations must be considered<br> and future research needs are being discussed.</p>
From blood to pluripotency: Fibrocytes as a reprogrammable somatic cell source for bovine iPSCs
GEO Series GSE314454. Bos taurus. 6 samples. Type: Expression profiling by high throughput sequencing.
embryogenesis col0-somatic embryogenesis
GEO Series GSE30425. Arabidopsis thaliana. 8 samples. Type: Expression profiling by array.
High-resolution transcriptional analysis of immunoglobulin variable regions reveals the absence of direct relationships between somatic hypermutation, nascent transcription and epigenetic marks [PRO-s
GEO Series GSE202041. Mus musculus; Homo sapiens; Drosophila melanogaster. 18 samples. Type: Other.
The regulation of synchronism by abscisic acid-responsive small non-coding RNAs during somatic embryogenesis in larch (Larix leptolepis)
GEO Series GSE49055. Larix kaempferi. 2 samples. Type: Non-coding RNA profiling by high throughput sequencing.
Germline and Somatic Disruption of DLG2 in Neuroblastoma
GEO Series GSE8933. Homo sapiens. 10 samples. Type: Genome variation profiling by genome tiling array.
Reprogramming human somatic cells to a pluripotent state
GEO Series GSE9071. Homo sapiens. 21 samples. Type: Expression profiling by array.
The genomic landscape of pediatric T-cell acute lymphoblastic leukemia reveals novel X-linked somatic mutations associated with apoptosis resistance. [Exome-Seq]
GEO Series GSE78783. Homo sapiens. 50 samples. Type: Other.
Rapid production and genetic stability of human mesenchymal progenitor cells derived from human somatic cell nuclear transfer-derived pluripotent stem cells
GEO Series GSE182415. Homo sapiens. 8 samples. Type: Expression profiling by array.
Transcription factor transcriptome during somatic embryogenesis (SE) in Arabidopsis thaliana
GEO Series GSE45697. Arabidopsis thaliana. 6 samples. Type: Expression profiling by RT-PCR.
Fip1 regulates mRNA alternative polyadenylation to promote embryonic stem cell self-renewal and somatic cell reprogramming.
GEO Series GSE47907. Mus musculus. 6 samples. Type: Expression profiling by array.
Impact of a Uty gene trap on the regulation of genes and the abundance of corresponding transcripts in adult mouse somatic (non-reproductive) cells (nucRNA-Seq)
GEO Series GSE147650. Mus musculus. 6 samples. Type: Expression profiling by high throughput sequencing.
Impact of a Uty gene trap on the regulation of genes and the abundance of corresponding transcripts in adult mouse somatic (non-reproductive) cells
GEO Series GSE147652. Mus musculus. 38 samples. Type: Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing.
Somatic piRNAs in veterbrate kidney
GEO Series GSE181811. Gallus gallus. 20 samples. Type: Expression profiling by high throughput sequencing; Non-coding RNA profiling by high throughput sequencing.
ARST17B2-Q Germline and Somatic Genetic Landscape of Pediatric Rhabdomyosarcoma
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. While these malignancies display aberrant myogenic differentiation, relatively little is known about genetic susceptibility to RMS, or how genetic variants influence subsequent somatic events and may be used in risk stratification strategies. A small percentage of cases are associated with mutations in TP53 (Li-Fraumeni syndrome), HRAS (Costello syndrome), and PTCH1 (nevoid basal cell carcinoma syndrome/Gorlin syndrome), suggesting the genetic origins of childhood RMS. In spite of this, little work has been done to characterize genetic susceptibility to this malignancy. We plan to leverage samples collected as part of D9902 to conduct one of the largest germline genomic studies of RMS. We anticipate that once genetic associations are identified, researchers can use the information to develop better strategies to detect, treat, and prevent childhood RMS.
Histologic image related to article "Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?"
<p>image of histological sample resulting from patient n. 2 </p>
Somatic reads mapped to HGAP4 CP genome (this study); and somatic CL reads mapped to CL genome (Arimoto et al, 2019)
<p>Somatic reads mapped to HGAP4 CP genome (this study); and somatic CL reads mapped to CL genome (Arimoto et al, 2019)</p>
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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.