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257
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ShareScore release 0.9.0
Dataset results
257 results for “Exome”
α-Ketoglutarate attenuates Wnt signaling and drives differentiation in colorectal cancer [exome-seq]
GEO Series GSE140263. Mus musculus. 2 samples. Type: Other.
Exome Genotyping Study of Scripps Venous Thrombosis Registry using Axiom® Exome Genotyping Array
GEO Series GSE76016. Homo sapiens. 315 samples. Type: Genome variation profiling by genome tiling array.
Medulloblastoma exome sequence analysis
Medulloblastomas are the most common malignant brain tumors in children. Identifying and understanding the genetic events that drive these tumors is critical for the development of more effective diagnostic, prognostic and therapeutic strategies. Recently, our group and others described distinct molecular subtypes of medulloblastoma based on transcriptional and copy number profiles. Here, we utilized whole exome hybrid capture and Illumina sequencing to identify somatic mutations across the coding regions of 92 primary medulloblastoma/normal pairs.
Exome Sequencing of Pleuropulmonary Blastoma
Pleuropulmonary blastoma (PPB) is a rare, aggressive pediatric cancer arising from the lung or pleural cavity. In this study, we sequenced and analyzed the exomes of 15 PPB matched tumor and normal pairs. This study is part of a larger effort to characterize pediatric cancers as part of the Slim Initiative for Genomic Medicine (SIGMA) project.
Whole-exome Sequencing of Intracranial Germ Cell Tumors performed at Human Genome Sequencing Center, Baylor College of Medicine
Intracranial germ cell tumors (IGCTs) are rare and biologically diverse tumors affecting mainly male adolescents with the highest incidence in Japan and other Asian countries. They are divided into two main groups, pure germinoma and nongerminomatous germ cell tumors (NGGCTs). Germinoma is the most common subtype. NGGCTs include teratoma, embryonal carcinoma, yolk sac tumor and choriocarcinoma. About 10% of germinomas and most NGGCTs remain refractory to multimodality therapy. Little is currently known about IGCTs except for KIT mutation or overexpression, observed in ~25% of pure germinomas and rarely seen in NGGCTs. As yet, there are no clues for the puzzle of onset during puberty, geographic and gender discrepancy in the incidence of IGCTs. With the collaboration of Texas Children's Hospital, Saitama Medical University Hospital, Kumamoto University Hospital, Nagoya University Hospital, Hokkaido University Hospital and Chinese University of Hong Kong, the Human Genome Sequencing Center at Baylor College of Medicine had access to 62 tumor specimens and 52 matched normal blood samples from 68 IGCT patients. We performed whole-exome sequencing, targeted deep sequencing and high-resolution SNP arrays to characterize the profile of somatic mutations, germline variants and DNA copy number alterations. The deposited BAM files record the sequence alignments used to generate the mutation data.
Exome sequencing identified mutations in clpex mouse mutants
GEO Series GSE131920. Mus musculus. 3 samples. Type: Genome variation profiling by high throughput sequencing.
Targeting STAT3-FoxO1 axis reverses de novo and acquired PARP inhibitor resistance independent of BRCA status [Whole-exome seq]
GEO Series GSE212433. Homo sapiens. 8 samples. Type: Other.
Selective advantage of epigenetically disrupted cancer cells via phenotypic inertia [Exome-seq]
GEO Series GSE178642. Homo sapiens. 10 samples. Type: Other.
Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy [Exome-Seq]
GEO Series GSE65762. Homo sapiens. 3 samples. Type: Genome variation profiling by high throughput sequencing.
Exome of Holstein Friesian Cows
GEO Series GSE62160. Bos taurus. 16 samples. Type: Genome variation profiling by high throughput sequencing.
Transcriptomic and epigenetic analyses of mouse organoids expressing BrafV600E mutation [Exome-seq]
GEO Series GSE121672. Mus musculus. 10 samples. Type: Genome variation profiling by high throughput sequencing.
Whole exome sequencing of Johns Hopkins NF1 Biospecimen Repository cohort
Whole exome sequencing of 68 patients, with multiple primary tumor types and control samples, from The Johns Hopkins NF1 Biospecimen Repository.
Whole Exome Sequencing of Craniopharyngioma Tumors at Human Genome Sequencing Center, Baylor College of Medicine
Craniopharyngioma is rare dysontogenic tumor that occurs at the base of the brain, above the pituitary gland. It is one of the most commonly diagnosed brain tumors in children aged 5-10 years old. In the United States, there are an estimated 350 new cases of craniopharyngioma diagnosed each year. Craniopharyngioma is thought to be derived from remnants of the developmental (embryonic) tissue from which the pituitary gland is derived. Although craniopharyngioma is a histologically benign tumor, it has a malignant behavior. They occur most commonly in the sellar and suprasellar regions, posing great challenges to clinical management. Activating mutations in the beta-catenin gene, CTNNB1 were identified in the majority of adamantinomatous craniopharyngiomas whereas the contribution of other genetic factors has yet to be explored. With the collaboration of Texas Children's Cancer and Hematology Centers at Baylor College of Medicine, the Human Genome Sequencing Center had access to 29 tumor specimens and matched normal blood samples from Craniopharyngioma patients. Whole-exome sequencing was performed to characterize the profile of somatic mutations. The deposited BAM files record the sequence alignments used to generate the mutation data.
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.
MPNST Cell Line Whole Exome Sequencing
MPNST Cell Line Whole Exome Sequencing from pediatric patient-derived cell lines.
Kids First: Whole Exome and Genome Sequencing in Structural Defects of The Neural Tube
Namespace hosted on the Kids First DRC FHIR services at fhir.kidsfirstdrc.org
Kids First: Whole Exome, Genome, and RNA Sequencing in Recessive Structural Brain Defects in Children
Namespace hosted on the Kids First DRC FHIR services at fhir.kidsfirstdrc.org
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.