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Identification of mutations
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Chemogenetic profiling enables the identification of gene mutations that enhance or suppress the activity of chemical compounds. This knowledge provides insights into drug mechanism of action, genetic vulnerabilities, and resistance mechanisms, all of which may help stratify patient populations and improve drug efficacy.
12p
vibransone
28-03-2024
5
2
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Accurate identification of real somatic variants is a primary part of cancer genome studies and precision oncology. However, artifacts introduced in various steps of sequencing obfuscate confidence in variant calling. Current computational approaches to variant filtering involve intensive interrogation of Binary Alignment Map (BAM) files and require massive computing power, data storage, and manual labor.
17p
vibransone
28-03-2024
2
2
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APOBEC-driven mutagenesis and functional positive selection of mutated genes may synergistically drive the higher frequency of some hotspot driver mutations compared to other mutations within the same gene, as we reported for FGFR3 S249C. Only a few APOBEC-associated driver hotspot mutations have been identified in bladder cancer (BCa).
20p
vibransone
28-03-2024
6
2
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The identification of functional non-coding mutations is a key challenge in the field of genomics. Here we introduce μ-cisTarget to filter, annotate and prioritize cis-regulatory mutations based on their putative effect on the underlying “personal” gene regulatory network.
13p
vioraclene
31-03-2024
4
2
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A key step in cancer genome analysis is the identification of somatic mutations in the tumor. This is typically done by comparing the genome of the tumor to the reference genome sequence derived from a normal tissue taken from the same donor.
18p
vioraclene
31-03-2024
2
1
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Identification of germline variation and somatic mutations is a major issue in human genetics. However, due to the limitations of DNA sequencing technologies and computational algorithms, our understanding of genetic variation and somatic mutations is far from complete.
15p
vibransone
28-03-2024
6
2
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Identifying expressed somatic mutations from single-cell RNA sequencing data de novo is challenging but highly valuable. We propose RESA – Recurrently Expressed SNV Analysis, a computational framework to identify expressed somatic mutations from scRNA-seq data. RESA achieves an average precision of 0.77 on three in silico spike-in datasets.
18p
vicwell
29-02-2024
3
2
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This study aimed to develop and externally validate contrast-enhanced (CE) T1-weighted MRI-based radiomics for the identification of epidermal growth factor receptor (EGFR) mutation, exon-19 deletion and exon-21 L858R mutation from MR imaging of spinal bone metastasis from primary lung adenocarcinoma.
9p
vialfrednobel
23-12-2023
7
4
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Upregulation of the mitogen-activated protein kinase (MAPK) cascade is common in hepatocellular carcinoma (HCC). Neuroblastoma RAS viral oncogene homolog (NRAS) is mutated in a small percentage of HCC and is hitherto considered insufficient for hepatocarcinogenesis.
16p
vialfrednobel
23-12-2023
6
2
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Metastatic disease in tumors originating from the gastrointestinal tract can exhibit varying degrees of tumor burden at presentation. Some patients follow a less aggressive disease course, characterized by a limited number of metastatic sites, referred to as “oligo-metastatic disease” (OMD).
9p
visharma
20-10-2023
4
2
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Part 2 book "PCR mutation detection protocols" includes content: Mutation surveyor - software for DNA sequence analysis, non invasive prenatal diagnosis, phylogenetic microarrays for cultivation independent identification and metabolic characterization of microorganisms in complex samples,....and other contents.
153p
oursky06
17-10-2023
2
1
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Lung adenocarcinoma (LUAD) is an extraordinarily malignant tumor, with rapidly increasing morbidity and poor prognosis. Immunotherapy has emerged as a hopeful therapeutic modality for lung adenocarcinoma. Furthermore, a prognostic model (based on immune genes) can fulfill the purpose of early diagnosis and accurate prognostic prediction.
20p
vioracle
29-09-2023
2
2
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Leukocyte adhesion deficiency type 1 (LAD1) is a rare congenital immunodeficiency disease. The cause of disease is determined to be the mutations in the ITGB2 gene that codes for CD18, the beta chain of beta-2 integrins, leads to decreased expression or functioning of CD18. This deficiency leads to severe impairment of leukocyte adhesion to the vascular wall and leukocyte migration to sites of infection and inflammation.
7p
vimulcahy
18-09-2023
5
3
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The application of WES in identifying mutations in ADPKD has been widely performed by researchers worldwide; however, in Vietnam, the utilization of WES in ADPKD studies is still limited. In this study, we applied WES to identify pathogenic variants for Vietnamese ADPKD patients and validated the obtained variants in the family using Sanger sequencing.
7p
vihawkeye
26-05-2023
8
2
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Maturity-onset diabetes of the young comprises a large group of autosomal inherited gene mutations. Maturity-onset diabetes of the young subtype 5 is caused by mutations in the HNF1B gene. This gene is expressed in the early phase of embryonic development in the pancreas, kidneys, liver, and genital tract; therefore, kidney or urinary tract malformations are associated with diabetes mellitus.
6p
vidoctorstrange
06-05-2023
4
2
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The clinical presentations of each patient in this study are different from each other, demonstrating the intrafamilial phenotypic variability of this mutation. Early identification of the underlying genetic course of the disease by sequencing, combined with clinical findings provides solid evidence to diagnosis process, genetic counseling and management strategy.
9p
vicaptainmarvel
21-04-2023
4
2
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Inducing mutations are considered to be an effective way to create novel genetic variations and hence novel agronomical traits in wheat. This study was conducted to assess the genetic differences between Shi4185 and its mutant line Fu4185, produced by gamma radiation with larger grain, and to identify quantitative trait loci (QTLs) for thousand kernel weight (TKW).
9p
vinarcissa
21-03-2023
4
1
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In this study, 131 gastric biopsies were taken from patients with gastritis who came to Hai Duong Provincial General Hospital for examination and treatment by request from January 2015 to July 2015 and they met the criteria: i) aged from 18-80; ii) infected with chronic gastritis, ulcer or gastric cancer; iii) not using antibiotic for a month before endoscopy.
3p
vijaguar
16-11-2022
2
1
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Hepatocellular carcinoma (HCC) is the most common primary liver cancer in the world. Although great advances in HCC diagnosis and treatment have been achieved, due to the complicated mechanisms in tumor development and progression, the prognosis of HCC is still dismal.
17p
vipriyankagandhi
27-07-2022
5
1
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The relationship between pyroptosis and cancer is complex. It is controversial that whether pyroptosis represses or promotes tumor development. This study aimed to explore prognostic molecular characteristics to predict the prognosis of breast cancer (BRCA) based on a comprehensive analysis of pyroptosis-related gene expression data.
16p
viangelamerkel
27-07-2022
2
2
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