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318 results for “mutational analysis”
Analysis of rod-cone dystrophy genes reveals unique mutational patterns
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Beyond mutations: accounting for selection and self-organization in the analysis of protein evolution
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Data, sample sizes, and R code for analysis of: Variation in mutation (co)variances
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Prognostic, biological, and structural implications of FLT3-JMD point mutations in acute myeloid leukemia: an analysis of Alliance studies
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A comparative analysis of somatic mutations occurring at "common" loci and other loci with the TCGA somatic mutation dataset.
<p>A comparative analysis of somatic mutations occurring at "common" loci and other loci with the TCGA somatic mutation dataset.</p>
Machine Learning and Radiomics analysis by Computed Tomography in colorectal liver metastases patients for RAS mutational status prediction
<p>We uploaded the Radiomics features raw data of the manuscript "<span>Machine Learning and Radiomics analysis by Computed Tomography in colorectal liver metastases patients for RAS mutational status prediction</span>"</p>
Survival analysis of DNA mutation motifs with penalized proportional hazards
<p>Output used to produce the tables and figures in the manuscript:</p> <p>Feng and Shaw, et al. (2017) Survival analysis of DNA mutation motifs with penalized proportional hazards. <em>Annals of Applied Statistics</em>, <em>under revision</em>.</p> <p><br> Preprint: <a href="http://arxiv.org/abs/1711.04057">http://arxiv.org/abs/1711.04057</a></p> <p>Package: <a href="http://github.com/matsengrp/samm">http://github.com/matsengrp/samm</a></p> <p> </p> <p>See README.md for more information.</p>
Mutational Analysis of the RB1 Gene in Patients with Unilateral Retinoblastoma
<p><strong><span>Mutational Analysis of the RB1 Gene in Patients with Unilateral Retinoblastoma in Jordan</span></strong></p>
Innovative Approach to Detect Recurrent Colorectal Lesions With Surveillance Via Mutation Analysis & Clinical Phenotype
ClinicalTrials.gov study NCT05929365. IPD Sharing: UNDECIDED. Countries: 1. Publications: 1.
Role of Rapid On-site Evaluation for Mutational Analysis of EBUS-TBNA Specimens
ClinicalTrials.gov study NCT01799382. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations
ClinicalTrials.gov study NCT02761473. IPD Sharing: NO. Countries: 1. Publications: 4.
Written Genetic Counseling and Mutation Analysis of BRCA1 and BRCA2 to Patients With Breast Cancer
ClinicalTrials.gov study NCT02557776. IPD Sharing: NO. Countries: 1. Publications: 1.
Mutational Analysis as a Prognostic and Predictive Marker of Cardiovascular (CVD) Disease in Patients With Myelodysplasia
ClinicalTrials.gov study NCT04110925. IPD Sharing: Not stated. Countries: 1. Publications: 6.
Multicenter Validation of the Sensitivity of Theranostic ALK Rearrangement Detection by FISH Analysis and Prevalence of Escaping Mutations in Circulating Tumor Cells for the Non-invasive Management of
ClinicalTrials.gov study NCT02372448. IPD Sharing: Not stated. Countries: 1. Publications: 0.
DNA-mutation Analysis in Cyst Fluid of Suspected Intraductal Papillary Mucinous Neoplasia of the Pancreas
ClinicalTrials.gov study NCT03820531. IPD Sharing: NO. Countries: 1. Publications: 6.
Impact of Concomitant Genetic Alterations in EGFR Mutated Adenocarcinoma by NGS Analysis: A Multicenter Study
ClinicalTrials.gov study NCT04122833. IPD Sharing: NO. Countries: 1. Publications: 5.
Clinical and Molecular Analysis in Two Families with Novel Compound Heterozygous SBP2 (SECISBP2) Mutations
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Data from: Genomic analysis of codon usage shows influence of mutation pressure, natural selection, and host features on Marburg virus evolution
Background. The Marburg virus (MARV) has a negative-sense single-stranded RNA genome, belongs to the family Filoviridae, and is responsible for several outbreaks of highly fatal hemorrhagic fever. Codon usage patterns of viruses reflect a series of evolutionary changes that enable viruses to shape their survival rates and fitness toward the external environment and, most importantly, their hosts. To understand the evolution of MARV at the codon level, we report a comprehensive analysis of synonymous codon usage patterns in MARV genomes. Multiple codon analysis approaches and statistical methods were performed to determine overall codon usage patterns, biases in codon usage, and influence of various factors, including mutation pressure, natural selection, and its two hosts, Homo sapiens and Rousettus aegyptiacus. Results. Nucleotide composition and relative synonymous codon usage (RSCU) analysis revealed that MARV shows mutation bias and prefers U- and A-ended codons to code amino acids. Effective number of codons analysis indicated that overall codon usage among MARV genomes is slightly biased. The Parity Rule 2 plot analysis showed that GC and AU nucleotides were not used proportionally which accounts for the presence of natural selection. Codon usage patterns of MARV were also found to be influenced by its hosts. This indicates that MARV have evolved codon usage patterns that are specific to both of its hosts. Moreover, selection pressure from R. aegyptiacus on the MARV RSCU patterns was found to be dominant compared with that from H. sapiens. Overall, mutation pressure was found to be the most important and dominant force that shapes codon usage patterns in MARV. Conclusions. To our knowledge, this is the first detailed codon usage analysis of MARV and extends our understanding of the mechanisms that contribute to codon usage and evolution of MARV.
Data from: Frequency and characteristics of MODY 1 (HNF4A mutation) and MODY 5 (HNF1B mutation) - Analysis from the DPV database
Objective. To characterize initial presentation and clinical course of patients with hepatocyte nuclear factor (HNF) 4A- and HNF1B-MODY in a multinational registry. Design, setting and participants. Within the Diabetes Patienten Verlaufsdokumentation (DPV) registry, 44 patients with HNF4A- and 35 patients with HNF1B-MODY were characterized and compared with patients < 20years old with type 1 diabetes (T1D)/type 2 diabetes (T2D). Main outcome measure. Clinical and laboratory parameters, therapy, metabolic control, and extrapancreatic symptoms in patients with HNF1B-MODY. Results. Patients with both MODY types were significantly older than T1D patients at diagnosis (HNF4A, 13.8 years and HNF1B, 13.5 years, vs. T1D, 8.8 years, P<0.0001). Mean C-peptide at diagnosis was higher for HNF4A-MODY than for T1D (1.8 vs. 0.9 ng/ml, P <0.01). 36.4% of patients with HNF4A-MODY and 65.7% of patients with HNF1B-MODY were treated with insulin, 20.5% and 8.6% received oral antidiabetics only (p<0.05 and p<0.01 vs. T2D). At the most recent visit, glycated hemoglobin levels were lower in HNF4A- and HNF1B-MODY compared to T1D (mean, 6.5% and 6.1%) than in T1D. In 40% of patients with HNF1B-MODY, extrapancreatic symptoms were reported. Several clinical predictors previously described to differentiate between MODY and T1D or T2D could be revalidated by logistic regression analyses in this cohort.Conclusion The DPV registry enabled us to precisely characterize phenotype and treatment in these two rare MODY types. Although phenotype of HNF4A-and HNF1B-MODY shows distinct differences to T1D and T2D, 38% of patients were initially misclassified as having T1D or T2D.
Comments on "Current status and quality of radiomic studies for predicting KRAS mutations in colorectal cancer patients: A systematic review and meta-analysis"
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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.