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98 results for “germline mutation”
Alpelisib Plus Olaparib in Platinum-resistant/Refractory, High-grade Serous Ovarian Cancer, With no Germline BRCA Mutation Detected
ClinicalTrials.gov study NCT04729387. IPD Sharing: YES. Countries: 26. Publications: 1.
Data from: Highly efficient generation of germline mutations using CRISPR/Cas9 in the speckled wood butterfly Pararge aegeria
Open the record for dataset details and reuse information.
Data and code of "Germline mutation rate predicts cancer mortality across 37 vertebrate species" article
<p>Data and code used in this article.</p> <p>The "Data.csv" file contains information about each species class, common name, average yearly mutation rate, trophic level, number of animals per species that died from cancer, records of mortality per species, the minimum confidence interval (CI) for the cancer mortality values, the maximum CI for the cancer mortality values, the standard error (SE) of the records of mortality per species, cancer mortality, average parental age (measured in months), maximum lifespan (measured in months), average parental age (measured in months), and whether a species is reported as domesticated/semidomesticated or not. The way the authors obtained these data, and the original sources of these data, are described in the methodology section of the article.</p> <p>The "Regression_analyses.R" file is the code we used in the regression analyses conducted in this article. The .phy file is the phylogenetic tree used in the regression analyses.</p> <p>The .txt, .nwk, .Rproj, and "germFit.R" files are the data and code we used for comparing the different models of phenotype evolution (comparison of 3 different models: Ornstein–Uhlenbeck, Brownian, and Early Burst).</p>
Assessment of the Efficacy and Safety of Olaparib Monotherapy Versus Physicians Choice Chemotherapy in the Treatment of Metastatic Breast Cancer Patients With Germline BRCA1/2 Mutations.
ClinicalTrials.gov study NCT02000622. IPD Sharing: YES. Countries: 19. Publications: 1.
Olaparib as Adjuvant Treatment in Patients With Germline BRCA Mutated High Risk HER2 Negative Primary Breast Cancer
ClinicalTrials.gov study NCT02032823. IPD Sharing: YES. Countries: 24. Publications: 3.
Olaparib Treatment in Relapsed Germline Breast Cancer Susceptibility Gene (BRCA) Mutated Ovarian Cancer Patients Who Have Progressed at Least 6 Months After Last Platinum Treatment and Have Received a
ClinicalTrials.gov study NCT02282020. IPD Sharing: YES. Countries: 13. Publications: 4.
Talazoparib For Neoadjuvant Treatment Of Germline BRCA1/2 Mutation Patients With Early Human Epidermal Growth Factor Receptor 2 Negative Breast Cancer
ClinicalTrials.gov study NCT03499353. IPD Sharing: YES. Countries: 1. Publications: 2.
Trial of Rucaparib in Patients With Metastatic Hormone-Sensitive Prostate Cancer Harboring Germline DNA Repair Gene Mutations
ClinicalTrials.gov study NCT03413995. IPD Sharing: UNDECIDED. Countries: 1. Publications: 1.
Germline and malignant melanoma sampled sequences containing point mutations
<p>Data files generated as part of a study into the influence of neighbouring bases on point mutation. The data are sampled from the Ensembl (http://www.ensembl.org) MySQL databases or COSMIC (http://cancer.sanger.ac.uk/cosmic) and processed using custom scripts that will be uploaded separately and associated with this submission via gthe related identifier.</p>
Mutation, selection, and the prevalence of the C. elegans heat-sensitive mortal germline phenotype
<p><em>C. elegans</em> strains with the heat-sensitive mortal germline (Mrt) phenotype become progressively sterile over the course of a few tens of generations when maintained at temperatures near the upper range of <em>C. elegans'</em> tolerance. Mrt is transgenerationally-heritable, and proximately under epigenetic control. Previous studies have suggested that Mrt presents a relatively large mutational target, and that Mrt is not uncommon in natural populations of <em>C. elegans</em>. The Mrt phenotype is not monolithic. Some strains exhibit a strong Mrt phenotype, in which individuals invariably become sterile over a few generations, whereas other strains show a weaker (less penetrant) phenotype in which the onset of sterility is slower and more stochastic. We present results in which we (1) quantify the rate of mutation to the Mrt phenotype, and (2) quantify the frequency of Mrt in a collection of 95 wild isolates. Over the course of ~16,000 meioses, we detected one mutation to a strong Mrt phenotype, resulting in a point estimate of the mutation rate U<em><sub>Mrt</sub></em>≈ 6 10<sup>-5</sup>/genome/generation. We detected no mutations to a weak Mrt phenotype. 6/95 wild isolates have a strong Mrt phenotype, and although quantification of the weak Mrt phenotype is inexact, the weak Mrt phenotype is not rare in nature. We estimate a strength of selection against mutations conferring the strong Mrt phenotype ≈0.1%, similar to selection against mutations affecting competitive fitness. The appreciable frequency of weak Mrt variants in nature combined with the low mutation rate suggests that Mrt may be maintained by balancing selection.</p>
Immune Evasion and Epithelial-to-Mesenchymal Transition in Fallopian Tube as an Early Event for Ovarian Cancer Development in Women with Germline BRCA1 Mutation
<p>The single cell RNA-seq and TCR-seq data of BRCA1 mutation carriers and normal controls</p>
Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry
ClinicalTrials.gov study NCT02302742. IPD Sharing: Not stated. Countries: 1. Publications: 2.
Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations
ClinicalTrials.gov study NCT02761473. IPD Sharing: NO. Countries: 1. Publications: 4.
Circulating Tumor DNA and BRCA Reversion Mutation in Advanced or Recurrent Ovarian Cancer Patients With Germline Mutation.
ClinicalTrials.gov study NCT05458973. IPD Sharing: NO. Countries: 1. Publications: 1.
Parental Irradiation of Ukrainian Cleanup Workers and Evacuees and Germline Mutations in Their Offspring (Trio Study)
ClinicalTrials.gov study NCT02566161. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Risk-reducing Strategies, Including Fimbriectomy, in Women With a Germline Mutation Predisposing to Ovarian or Pelvic Cancer
ClinicalTrials.gov study NCT06726330. IPD Sharing: UNDECIDED. Countries: 1. Publications: 0.
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
ClinicalTrials.gov study NCT02461446. IPD Sharing: Not stated. Countries: 1. Publications: 1.
A Study of Fluzoparib±Apatinib Versus Chemotherapy Treatment of Physician's Choice in HER2-negative Metastatic Breast Cancer Patients With Germline BRCA Mutation
ClinicalTrials.gov study NCT04296370. IPD Sharing: NO. Countries: 1. Publications: 1.
TAS-117 in Patients With Advanced Solid Tumors Harboring Germline PTEN Mutations
ClinicalTrials.gov study NCT04770246. IPD Sharing: NO. Countries: 4. Publications: 1.
Germline Mutations Associated With Hereditary Pancreatic Cancer in Unselected Patients With Pancreatic Cancer in Mexico
ClinicalTrials.gov study NCT05305001. IPD Sharing: UNDECIDED. Countries: 1. Publications: 12.
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.