Mutational analysis molecular sequence data. Medical search. Frequent questions

Similar to whole genome sequencing, the information generated from this technique include: identification of nucleotide bases (DNA or RNA), copy number and sequence variants, mutation status, and structural changes such as chromosomal translocations and fusion genes. (wikipedia.org)
We determined the accuracy of MAPs plasma sequencing with respect to droplet digital polymerase chain reaction assays (ddPCR), and tested whether actionable mutation discovery is improved by next-generation sequencing (NGS) in a clinical setting. (nature.com)
Protein structural analysis, cellular functional studies and reverse phenotyping proved that the condition in this family is due to a homozygous INPP5E mutation. (lancs.ac.uk)
Restriction site associated DNA sequencing for tumour mutation burden estimation and mutation signature analysis. (otago.ac.nz)
Comprehensive data on ERBB2 (HER2) mutation, gene copy number and protein expression highlight the role of ERBB2 alteration as a proliferative driver in some breast cancer, ovarian cancer, colorectal cancer, bladder cancer and non-small-cell lung carcinoma (NSCLC) patients. (carislifesciences.com)
By utilizing a variety of profiling technologies, including Next-Generation Sequencing (NGS), IHC and dual in situ hybridization (dual ISH), Caris found that ERBB2 may be the sole identified driver mutation in the various tumor types listed above. (carislifesciences.com)
Practical issues in identifying and communicating incidental and unexpected findings arising from mutation analysis utilizing next-generation sequencing for clinical oncology. (carislifesciences.com)
DNA analysis revealed that each harbors a single missense mutation in the AChR alpha-subunit gene, alphaF256L. (ox.ac.uk)
METHODS: These methods included clinical diagnosis, mutation detection, haplotype analysis, and functional expression studies using single-channel recordings of mutant AChR transiently transfected into HEK293 cells. (ox.ac.uk)
EGFR and KRAS mutation testing was evaluated using real time polymerase chain reaction (RT-PCR cobas ® ), BRAF and NRAS mutations using multiplex PCR and capillary electrophoresis-single strand conformation analysis, and ALK and MET aberrations with fluorescent in situ hybridization. (biomedcentral.com)
Mutation analysis by NGS was performed using a-100 gene panel. (frontiersin.org)
Mutation analysis indicated the presence of germline mutations in three genes and somatic mutations in two other genes. (frontiersin.org)
Here, we determined the effect of Jiyuan oridonin A (JOA), an ent -kaurene diterpenoid compound, on the differentiation blockade in imatinib-sensitive, particularly, imatinib-resistant CML cells with BCR-ABL-T315I mutation by cell proliferation assay, apoptosis analysis, cell differentiation analysis, cell cycle analysis and colony formation assay. (jcancer.org)
[ 9 ] The requirement by CMS to enroll in a prospective registry patients undergoing F1CDx may provide response rate data for specific combinations of mutation, tissue and drug, but it will be unable to provide estimates of the change in PFS or OS, if any, as there is no contemporary control arm. (medscape.com)
Our analyses suggest that age-associated mutation load and burden double approximately every 8 years, similar to the all-cause mortality doubling time. (who.int)

In this study 13,023 genes were sequenced in 11 breast and 11 colorectal tumors. (wikipedia.org)
A growing understanding of cancer molecular complexity and the role of oncogenic drivers such as mutations in genes encoding the epidermal growth factor receptor ( EGFR ), V-Ki-Ras2 Kirsten Rat Sarcoma 2 ( KRAS ), (MET) and Anaplastic Lymphoma Kinase (ALK) genes have ushered in the era of targeted therapies. (nature.com)
Co-expression analysis highlights the function of mitochondrial genes in oxidative phosphorylation, DNA repair and the cell cycle, and shows their connections with clinically actionable genes. (lu.se)
Analysis is in progress to map these loci and identify the genes responsible for the retinal degeneration phenotype in these mutant lines. (zfin.org)
A common approach to the mutational screening of candidate genes consists of sequencing their exons and immediate intron boundaries. (molvis.org)
However, since pathogenic mutations can sometimes be located deep within introns, as was recently shown for retinal degeneration genes as well [ 7 , 8 ], we decided to analyze the full MDH1 sequence. (molvis.org)
A more comprehensive analysis of 236 cancer genes using next generation sequencing demonstrated all 98 patients to have at least one genomic alteration [ 14 ]. (biomedcentral.com)
Molecular characterization of these benign yet rapidly proliferating tumors has been limited to evaluating a few mutations in few genes. (frontiersin.org)
This is achieved through mechanistic studies of functionally important epigenetic "driver" genes and molecular pathways altered by specific cancer risk agents and by the application of cutting-edge epigenomics in conjunction with unique biospecimens from population-based cohorts (Figure 1). (who.int)
This was further supported by long-read sequencing of one representative XDR isolate, which revealed the presence of an integron carrying multiple resistance genes, including bla VIM-2 , with differences in gene composition and synteny to other P. aeruginosa class 1 integrons described before. (who.int)

Cancer genome sequencing is the whole genome sequencing of a single, homogeneous or heterogeneous group of cancer cells. (wikipedia.org)
Unlike whole genome (WG) sequencing which is typically from blood cells, such as J. Craig Venter's and James D. Watson's WG sequencing projects, saliva, epithelial cells or bone - cancer genome sequencing involves direct sequencing of primary tumor tissue, adjacent or distal normal tissue, the tumor micro environment such as fibroblast/stromal cells, or metastatic tumor sites. (wikipedia.org)
Cancer genome sequencing is not limited to WG sequencing and can also include exome, transcriptome, micronome sequencing, and end-sequence profiling. (wikipedia.org)
The first report of cancer genome sequencing appeared in 2006. (wikipedia.org)
The first whole cancer genome to be sequenced was from cytogenetically normal acute myeloid leukaemia by Ley et al. (wikipedia.org)
Historically, cancer genome sequencing efforts has been divided between transcriptome-based sequencing projects and DNA-centered efforts. (wikipedia.org)
The Cancer Genome Anatomy Project (CGAP) was first funded in 1997 with the goal of documenting the sequences of RNA transcripts in tumor cells. (wikipedia.org)
The Sanger Institute's Cancer Genome Project, first funded in 2005, focuses on DNA sequencing. (wikipedia.org)
The International Cancer Genome Consortium (ICGC) was founded in 2007 with the goal of integrating available genomic, transcriptomic and epigenetic data from many different research groups. (wikipedia.org)
Identification and characterization of all these changes can be accomplished through various cancer genome sequencing strategies. (wikipedia.org)
The power of cancer genome sequencing lies in the heterogeneity of cancers and patients. (wikipedia.org)
Cancer genome sequencing allows clinicians and oncologists to identify the specific and unique changes a patient has undergone to develop their cancer. (wikipedia.org)
These cellular factions could only have been identified through cancer genome sequencing, showing the information that sequencing can yield, and the complexity and heterogeneity of a tumor within one individual. (wikipedia.org)
The two main projects focused on complete cancer characterization in individuals, heavily involving sequencing include the Cancer Genome Project, based at the Wellcome Trust Sanger Institute and the Cancer Genome Atlas funded by the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI). (wikipedia.org)
The Cancer Genome Projects goal is to identify sequence variants and mutations critical in the development of human cancers. (wikipedia.org)
Here, as part of the International Cancer Genome Consortium/The Cancer Genome Atlas Pan-Cancer Analysis of Whole Genomes Consortium, which aggregated whole-genome sequencing data from 2,658 cancers across 38 tumor types, we performed a multidimensional, integrated characterization of mitochondrial genomes and related RNA sequencing data. (lu.se)
We analyzed nasopharyngeal swab (n = 6) and bronchoalveolar lavage (n = 3) samples from 9 patients with COVID-19 to perform SARS-CoV-2 whole-genome reconstruction and mutational analysis. (cdc.gov)
Phylogenetic analysis of 150 severe acute respiratory syndrome coronavirus 2 representative genome sequences, including genomes collected in Italy (blue) and sequences identified for this study at the National Institute for Infectious. (cdc.gov)
Next generation sequencing (NGS) is a new frontier in cancer and biomedical research, and these approaches are rapidly becoming the preferred method for human disease-based analysis due to vastly improved genome coverage and resolution [ 1 ]. (biomedcentral.com)
Despite the intrinsic complexity of human genome sequences, reads were easily mapped and analyzed, and all algorithms used provided the same results. (molvis.org)
Structural Variation Detection and Association Analysis of Whole-Genome-Sequence Data from 16,905 Alzheimer's Diseases Sequencing Project Subjects. (cdc.gov)
Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death (SUID) using Whole Genome Sequencing (WGS). (cdc.gov)
Over the past 10 years, following the disclosure of the Human Genome Project's results, advances in sequencing technologies have reached a point where NGS-based diagnostics can be considered for cancer clinical research. (hospitalhealthcare.com)
Large-scale whole-genome or whole-exome sequencing might not appear to be the first choice for this type of screening strategy, but today high throughput, low cost, targeted genome sequencing is much further developed in the field of cancer research and diagnostics. (hospitalhealthcare.com)
Click on the ID of any 3D structure of interest listed in the search results to open the Structure Summary and related pages including Structure Summary , 3D View , Annotations , Experiment , Sequence , Genome , Ligands , and Versions . (sdsc.edu)
Validation of clinical-grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly-diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project. (ox.ac.uk)
This pilot study sought to examine the feasibility of incorporating Whole Genome Sequencing (WGS) alongside the routine laboratory evaluation of 14 patients with newly diagnosed multiple myeloma who had enrolled in the 100,000 Genomes Project. (ox.ac.uk)
Analysis of 2179 clonal sequences derived from hypervariable region 1 (HVR1) of the HCV genome in samples obtained from patients with acute (n = 49) and chronic (n = 102) HCV infection showed that intra-host HVR1 diversity was 1.8 times higher in patients with chronic than acute infection. (iospress.com)
Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer. (who.int)
To address this aim we have designed the lungNENomics study, an international cohort of over 250 cases of pulmonary carcinoids, with clinical data and central pathology review, as well as whole-genome sequencing, RNA sequencing, DNA methylation array, and digital spatial profiling data. (who.int)

Several techniques are currently available to detect cfDNA, including highly sensitive PCR (polymerase chain reaction) assays and next-generation sequencing (NGS). (nature.com)

Due to broader coverage and high sensitivity for insertions and deletions, sequencing via MAPs afforded important detection of additional actionable mutations. (nature.com)
Consistent with the absence of identified mutations, linkage analysis excluded linkage of the mutant phenotypes to crx. (zfin.org)
An in-depth review of mutational and phenotypic spectrum associated with INPP5E demonstrated that mutations in this gene lead to a range of cilliopathy-phenotypes. (lancs.ac.uk)
METHODS: DNA from CMS patients was analyzed for mutations by single-strand conformation polymorphism analysis, DNA sequence analysis, and restriction endonuclease digestion. (ox.ac.uk)
Functional analysis of mutations was by alpha-bungarotoxin binding studies and by patch clamp analysis of mutant AChR expressed in human embryonic kidney cells. (ox.ac.uk)
For instance, NGS-based comprehensive analysis of certain cancers has already helped to uncover specific mutations that contribute to the malignant process, identify new therapeutic targets, and improve opportunities for choosing the best treatment for an individual patient. (biomedcentral.com)
Therefore, we reasoned that MDH1 could correspond to the RP28 locus, and mutations in its sequence could be responsible for the disease in a manner similar to that of pathogenic changes in IDH3B . (molvis.org)
The present study provides new insights into TERT p mutational spectrum occurring in central nervous system tumors, with the identification of new recurrent somatic gain-of-function mutations, occurring in 0.8% of glioblastoma IDH -wildtype. (biomedcentral.com)
β-Thalassemia (β-thal) is a hereditary disease with at least 200 known causative molecular defects, with a limited number of distinct mutations predominating in any given population. (fiocruz.br)
Although occurrences of β-thal in this country have been recognized for a long time and previous studies have shown important regional differences related to the mutational profile, no extensive analysis of mutations of the HBB gene has been carried out in Brazil. (fiocruz.br)
Cancer biology is complex, so an alternative would be to perform multiple gene assays that could establish the somatic mutational profile of a tumour, and subsequently check if any of the mutations could be addressed therapeutically with agents targeting those specifically defined mutations (for example, BRAF, EGFR, KRAS etc. (hospitalhealthcare.com)
Moreover, for research purposes we have adopted targeted DNA and RNA sequencing, as well as Whole Exome Sequencing and other innovative genomic platforms to identify somatic or germline mutations (SNV), copy number variations (CNV), small insertions/deletions, and gene fusions. (ifo.it)
The analysis of 16 selected RTKs led by a research group at the Centre Léon Bérard, Lyon, France, showed that clinical efficacy with the best TKI was strong in patients with RTK translocations, variable in patients with missense mutations and weak in patients with amplifications. (esmo.org)
A recent molecular and functional examination of the mutational effects showed that, although some mutations affect both substrate affinity and efficiency of the reaction, others affect one more than the other. (medscape.com)

Our quantitative framework provides new insight into the evolutionary trajectories of human cancers and facilitates predictive measurements in individual tumors from widely available sequencing data. (nature.com)
Sequencing data were available in a selected subset of tumors in order to verify the reliability of real-time PCR analysis. (edgehill.ac.uk)
Our data indicate that real-time PCR with melting curve analysis is a reliable technique for LOH and MI detection and indicate that genetic errors at the MEN1 locus but also distal to it may be involved in the development of sporadic pulmonary carcinoid tumors. (edgehill.ac.uk)
Sequence analysis of two tumors failed to reveal any structural changes within exon 1, as found by others in Burkitt's lymphoma. (lu.se)
The more I learned about cancer, the better I understood that its therapy should rely on a personalized and exhaustive molecular and cellular characterization of tumors and that immunotherapy represents the most promising clinical approach. (unil.ch)
The coverage decision for F1CDx dramatically expands on current profiling and will provide information for tumors where mutational testing is not common, such as pancreatic and prostate cancer. (medscape.com)
Third, match rates, a prerequisite for clinical benefit, remain suboptimal for next-generation sequencing in diverse solid tumors. (medscape.com)

This study reports data from 356 lung cancer patients receiving plasma testing as part of routine clinical management. (nature.com)
Introduction Next Generation Sequencing (NGS) is a useful tool in diagnosis of rare disorders but the interpretation of data can be challenging in clinical settings. (lancs.ac.uk)
Impact of clinical data veracity on cancer genomic research. (otago.ac.nz)
Ordered by nearly 6,000 oncologists in 58 countries, Molecular Intelligence correlates molecular data generated from a patient's tumor with biomarker/drug associations derived from clinical cancer literature. (carislifesciences.com)
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. (ox.ac.uk)
METHODS: In this paper, we describe the molecular (DNA sequencing) and clinical analysis of six children diagnosed with EvC from four different families from the United Arab Emirates (UAE). (ox.ac.uk)
Microarray transcriptome analyses have resulted in important advances in both the scientific and clinical domains of biomedicine. (biomedcentral.com)
A suite of custom software tools have been developed to rapidly integrate, explore, discover and validate molecular profiling data from the NGS modalities of Whole Exome Sequencing (WES) and RNA-seq with each other, as well as with historical microarray and salient clinical datasets. (biomedcentral.com)
Thus, for cancer scenarios where the standard-of-care options are poor (e.g., drug resistance, metastasis), drug assignments based on the mutational landscape of a patient's tumor can sometimes provide significant benefit, and are a very active research topic in clinical trials and translational medicine [ 4 ]. (biomedcentral.com)
It would require reshuffling the order of daily oncology practice to include a panel of clinical and molecular experts who could translate the NGS data into an appropriate treatment decision. (hospitalhealthcare.com)
The European Organisation for Research and Treatment of Cancer (EORTC), for example, has already launched a novel collaborative molecular screening programme, SPECTA, Screening Patients for Efficient Clinical Trial Access for patients with cancer, an initiative which implements NGS technology to help provide patients with personalised treatment. (hospitalhealthcare.com)
In all 14 cases, WGS data could be obtained in a timely fashion within existing clinical frameworks in a tertiary hospital setting. (ox.ac.uk)
Its aim is to expedite the systematic application of methods for nucleic acid analysis, including Next Generation Sequencing (NGS), Nanostring, and digital PCR (dPCR), to institutional programs with a strong clinical-translational impetus and practice-changing potential. (ifo.it)
The combination with other molecular markers and clinical data enables us to discover biomarkers which will ultimately improve prediction of survival and response to therapy. (ifo.it)
Although the incidence of real alterations that will confer a good clinical benefit was very low, next-generation sequencing (NGS) is still warranted," notes Moreno. (esmo.org)
The WHO classification system of MDS relies on incorporating clinical features, peripheral blood and bone marrow findings, and cytogenetic analysis. (medscape.com)
Second, F1CDx lacks randomized data showing superiority to the current strategy of selecting a salvage therapy based on histopathology and clinical considerations. (medscape.com)
Additionally, we identified six tumours, termed supra-carcinoids, that displayed genuine carcinoid-like morphology, but had clinical and molecular characteristics of LNECs. (who.int)
The focus of our work is to better understand the biological and clinical characteristics of these molecular groups of carcinoids. (who.int)
2] A study in Italy provided an overview of clinical findings and biochemical and molecular data concerning 13 Italian patients. (medscape.com)
In this review, we describe the concept of genotoxicity and its laboratory measurements, summarise hydroxyurea-associated data from both preclinical and clinical studies, and discuss carcinogenic potential. (cdc.gov)

Run-on analysis showed transcriptional attenuation in the normal rat myc gene, similar to the situation in mice and humans. (lu.se)

Here we measure clone dynamics in human cancers by using computational modeling of subclonal selection and theoretical population genetics applied to high-throughput sequencing data. (nature.com)

As of December 2011, the ICGC includes 45 committed projects and has data from 2,961 cancer genomes available. (wikipedia.org)
Our analysis presents the most definitive mutational landscape of mitochondrial genomes and identifies several hypermutated cases. (lu.se)
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study. (cdc.gov)
We sequenced the whole genomes of 176 P. aeruginosa isolates collected in 2013-2014 by the Antimicrobial Resistance Surveillance Program. (who.int)
The population of P. aeruginosa in the Philippines was diverse, with clonal expansions of XDR genomes belonging to multi-locus sequence types ST235, ST244, ST309, and ST773. (who.int)
Here by analysing human cancer genomes we identify mutational patterns associated with aging. (who.int)

Fig. 3: Quantifying selection from high-depth bulk sequencing of human cancers. (nature.com)
Next Generation Sequencing (NGS) methods are rapidly providing remarkable advances in our ability to study the molecular profiles of human cancers. (biomedcentral.com)
Data table showing topics related to specific cancers and associated disorders. (cancerindex.org)
The French study used pan-cancer public databases (MSK-IMPACT / MSK-MET) and in-house sequencing data (including from the PROFILER and PROFILER 02 trials) to look at the molecular landscape of cancers with alterations in EGFR, HER2, PDGFRA, KIT, FLT3, NTRK1-2-3, ROS1, ALK, RET, MET and FGFR1-2-3-4. (esmo.org)

Mutational sensitivity tests have shown that the amino acid sequences of many functional proteins must be highly complex and specified in order to function. (evolutionnews.org)
Intriguingly, the overall fold of the bet3 and trs33 monomers was similar, although the proteins had little overall sequence identity. (proteopedia.org)

RESULTS: The analysis indicated that the zebrafish crx gene consisted of three exons and 2 introns, and spans 3.8 kb of genomic DNA. (zfin.org)

We have compiled the INPP5E mutational spectrum and provided novel insights into their molecular mechanisms. (lancs.ac.uk)
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis. (nih.gov)

A comprehensive picture of the landscape of receptor tyrosine kinases (RTKs) targetability was presented at the Molecular Analysis for Precision Oncology (MAP) Congress 2022, adding further knowledge on the use of tyrosine kinase inhibitor (TKI) monotherapy across cancer types (Abstract 6MO). (esmo.org)

1990. Cytogenetic analyses of mice exposed to dichloromethane. (cdc.gov)

identified cellular fractions characterized by common mutational changes to illustrate the heterogeneity of a particular tumor pre- and post-treatment vs. normal blood in one individual. (wikipedia.org)
CONCLUSIONS: Given the small population size of UAE, our data illustrates further the molecular heterogeneity observed in EvC patients and excludes the possibility of a common founder effect for this condition in the UAE reflecting the current ethnic diversity of the country. (ox.ac.uk)
An approach to the genetic complexity and heterogeneity issue is to combine additional modalities, for example transcriptome data. (biomedcentral.com)
On the biological side, I am interested in tumor heterogeneity and characteristics, such as tumor microenvironment, gene expression, mutational landscape, immune infiltration. (unil.ch)
However, with ever-increasing knowledge of the biology and molecular heterogeneity of myeloid neoplasms comes the ability to further classify MDS with prognostic and predictive relevance. (medscape.com)

Sequencing-based liquid biopsy testing offers tremendous promise for tailoring treatment regimens to the changing tumor genomic landscape. (nature.com)

It is a biochemical laboratory method for the characterization and identification of the DNA or RNA sequences of cancer cell(s). (wikipedia.org)
but molecular and cellular characterization has been limited. (frontiersin.org)

I initiated my bioinformatics skills at Vital-IT (Swiss Institute of Bioinformatics) where I worked on diverse projects ranging from next-generation sequencing to data visualization. (unil.ch)
There challenges still remain to successfully transition NGS technologies to the clinic, especially in terms of data analysis and storage for which sophisticated bioinformatics pipelines are still needed and also in data interpretation that requires a team of multidisciplinary experts. (hospitalhealthcare.com)
EGE also develops epigenomic methodologies, profiling strategies, and bioinformatics tools, applicable to population-based cohorts and molecular epidemiology studies coordinated by IARC researchers and external collaborators. (who.int)

Molecular profiling of a cancer patient's tumor to reveal targetable alterations is an important first step in the personalization of cancer treatment plans. (nature.com)
Our data presentations at this year's Annual Meeting clearly validate the use of a multi-platform approach when profiling a patient's tumor," said Zoran Gatalica, M.D., DSc, Executive Medical Director at Caris Life Sciences. (carislifesciences.com)

Results: Immunohistochemistry for all patients followed by RNA-based next-generation sequencing after a positive result was the optimal strategy in all included countries. (bvsalud.org)
Distribution of cMET by IHC, FISH and next-generation sequencing in cancer - a large cohort analysis. (carislifesciences.com)
We performed next-generation sequencing (SARS-CoV-2 Panel) on Ion Torrent platform (Thermo Fisher Scientific, https://www.thermofisher.com ) using shotgun approach for INMI3-4 and amplicon approach for INMI5-10. (cdc.gov)
In this regard, I am developing pipelines and tools for the analysis of next-generation sequencing (WGS, WES and RNAseq) and proteomics (MS/MS) data analysis. (unil.ch)
For this, Next Generation Sequencing (NGS) is one of the most promising technologies for such a high throughput screening approach because it can generate extensive data on a single sample at a reasonable price. (hospitalhealthcare.com)

60 (57 %) patients had suitable tumour tissue for molecular testing. (biomedcentral.com)
The paucity of patients with sufficient tumour tissue, quality of DNA extracted and low frequency of aberrations detected indicate that alternative molecular characterisation approaches are necessary, such as the use of circulating plasma DNA in patients with SCLC. (biomedcentral.com)
ParetoTI theory identified four tumour archetypes within the tetrahedron, corresponding to the three previously reported molecular groups, and the fourth enriched for the aggressive supra-carcinoids. (who.int)

Methods and results Using data from the Exome Variant Server, we show that missense RABL6 variants are unlikely to cause early onset rare developmental disorder. (lancs.ac.uk)

Information related to one or more components integrated from other data resources, mapped onto the 3D structure(s), and made available at RCSB.org - e.g., functional and mutational information about macromolecule(s) from UniProt. (sdsc.edu)
Defining the architecture of the complexes will advance our understanding of the functional differences between these highly related molecular machines. (proteopedia.org)

1 Institute for Molecular and Cellular Biology, Faculty of Engineering, Osaka University, Japan. (nih.gov)
In both a 9,000-plus patient study on the importance and role of cMET gene expression and a 1600-plus patient study on how to best assess PTEN protein expression levels, the use of traditional laboratory methodologies, such as IHC and fluorescence in situ hybridization (FISH), in combination with sequencing technologies like NGS, was critical to rendering a complete and accurate view of a tumor's biology. (carislifesciences.com)
This task is potentially further complicated when a multitude of molecular profiling modalities are available, with the goal of a more integrative and comprehensive analysis of the cancer biology. (biomedcentral.com)
I obtained my Master's in Molecular and Structural Biology (focusing on cancer research) at the University of Geneva. (unil.ch)
Studies published in In Silico Biology generally use theoretical models and computational analysis to gain quantitative insights into regulatory processes and networks, cell physiology and morphology, tissue dynamics and organ systems. (iospress.com)
1974. Biological handbooks: Biology data book, Vol 3. (cdc.gov)
While progress has been made in recent years in the characterisation of pulmonary carcinoids, little is known about the underlying biology or developmental origins of these molecular groups, hampering efforts to identify predictive markers and suitable therapeutic options. (who.int)

Since February 2017 we have assigned an EGFR mutational status in 114 different blood samples from 74 patients with lung cancer, providing a minimally invasive, recursive, longitudinal strategy to monitor and assign target therapy. (ifo.it)

Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes. (cdc.gov)

Genomic organization was determined by alignment of contigs with published cDNA sequences and zebrafish genomic sequence from Sanger and Ensembl databases. (zfin.org)

By enhancing a DNA examination with transcriptome data, a multi-modality study of a particular patient's cancer is formed, yielding increased scientific/analytical rigor and potential insights. (biomedcentral.com)

Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort. (cdc.gov)

Insights into H 2 O 2 -induced signaling in Jurkat cells from analysis of gene expression. (otago.ac.nz)
My methods and results can be used to translate existing molecular sequence data into novel insights, and to improve the understanding of important evolutionary systems, and all together constitute an accessible platform for quantifying selective pressure on molecular sequences. (temple.edu)
The data not only replicated standard-of-care FISH analysis of chromosomal abnormalities but also provided further chromosomal and molecular genetic insights that may influence patient management. (ox.ac.uk)
The term 'in silico' is a pendant to 'in vivo' (in the living system) and 'in vitro' (in the test tube) biological experiments, and implies the gain of insights by computer-based simulations and model analyses. (iospress.com)

In the ACC-immuno working group, that aims to find novel biomarkers for the response to immunotherapy in Non Small Cell Lung Cancer, the Genomics Workgroup is one of the main hubs for RNA sequencing and bioinformatic analysis. (ifo.it)

Nevertheless, the information about the molecular epidemiology of SARS-CoV-2 strains circulating in Italy is still limited. (cdc.gov)
However, the molecular epidemiology and AMR mechanisms of this pathogen remains largely uncharacterized. (who.int)

Mutational, thermodynamic and comparative structural analysis suggests that natural and in vitro selected GNRA receptors can essentially be grouped in two major classes of GNRA binders. (cnrs.fr)

Non-actionable clonal hematopoiesis-associated variants were identified via sequencing in 21% of samples. (nature.com)

Deletional and mutational analysis of the function of mouse LDH-reporter fusion gene constructs in transient transfection assays defined three domains, between -41 and -84 base pairs upstream of the transcription initiation site, which were crucial for oxygen-regulated expression. (ox.ac.uk)
Deletional analysis of transposon sequences within first-generation SB vectors showed that the inverted repeats of the element are necessary and sufficient to mediate high-efficiency transposition. (mdc-berlin.de)

An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis. (ox.ac.uk)

Molecular Diagnostic and Prognostication Assays for the Subtyping of Urinary Bladder Cancer Are on the Way to Illuminating Our Vision. (who.int)

In this study, we investigate the feasibility of undertaking focused molecular analyses on routine diagnostic biopsies in patients with SCLC. (biomedcentral.com)
The group embeds diverse areas of expertise, from routine molecular diagnosis to basic research. (ifo.it)

Primary data include information about the specific 3D structure - e.g., structural coordinates, sequences of biological macromolecules, information about any small molecules/ligands present in the structure, details about structure determination method(s), authors and publication information. (sdsc.edu)

A study demonstrating the power of combining DNA sequencing technology with immunohistochemistry (IHC) to assess PTEN expression levels in cancer patients. (carislifesciences.com)

These methods can be used to quantify gene expression, miRNA expression, and identify alternative splicing events in addition to sequence data. (wikipedia.org)
Professor Black is a member of the Centre for Translational Cancer Research, and his research focuses on the development of methods for the analysis of genomic data, with a strong emphasis on cancer and other human diseases. (otago.ac.nz)
1977. Methods of air sampling and analysis. (cdc.gov)

CCK-8 assay, flow cytometric analysis, western blotting, orthotopic GBM model as well as transwell assay were performed to investigate the biological role of CASP5. (cancerindex.org)
We publish peer-reviewed leading-edge biological, biomedical and biotechnological research in which computer-based (i.e., 'in silico' ) modeling and analysis tools are developed and utilized to predict and elucidate dynamics of biological systems, their design and control, and their evolution. (iospress.com)

Near-real-time pathogen molecular surveillance is an important part of understanding the spread of disease. (temple.edu)
Our development of scalable tools to analyze big datasets of viral pathogen sequences is a critical step forward for global public health. (temple.edu)

The most important of these, although not capable of driving hypoxic induction in isolation, had the consensus of a hypoxia-inducible factor 1 (HIF-1) site, and cross-competed for the binding of HIF-1 with functionally active Epo and phosphoglycerate kinase-1 sequences. (ox.ac.uk)

However, NGS also brings new demands regarding the size and complexity of the associated data sets. (biomedcentral.com)

The molecular consequence of translocation is overexpression of the protein cyclin D1 (coded by the PRAD1 gene located close to the breakpoint). (medscape.com)

Analysis of the mutant and wild-type-280 variants using luciferase reporter gene expression in transiently transfected neuroblastoma cells showed a 30% decrease in transcriptional activity for the mutant-280G PSEN1 promoter variant compared with the wild-type variant-280C. (ox.ac.uk)
To understand the organization of cis-acting sequences that are responsible for oxygen-regulated gene expression, we have studied the 5' flanking region of the mouse gene encoding the hypoxically inducible enzyme lactate dehydrogenase A (LDH). (ox.ac.uk)
Special areas of interest include signal transduction and information processing, gene expression and gene regulatory networks, metabolism, proliferation, differentiation and morphogenesis, among others, and the use of multi-scale modeling to connect molecular and cellular systems to the level of organisms and populations. (iospress.com)

Pangenome graphs in infectious disease: A comprehensive genetic variation analysis of Neisseria meningitidis leveraging Oxford Nanopore long reads. (otago.ac.nz)
A Nanopore sequencing-based pharmacogenomic panel to personalize tuberculosis drug dosing. (cdc.gov)

Here, a new sequencing error-reduction method based on molecular amplification pools (MAPs) was utilized to analyze cfDNA in lung cancer patients. (nature.com)
We emphasize that interpretation of NGS data is an iterative process and its dynamic nature should be explained to patients and families. (lancs.ac.uk)
In a subgroup analysis with only NTRK-positive patients, the incremental net monetary benefit was int 8405 in England, int -53,088 in Hungary and int 54,372 in The Netherlands. (bvsalud.org)
For the treating physician, this means Caris Molecular Intelligence provides the most useful information available when selecting therapy for critically ill cancer patients. (carislifesciences.com)
As the first commercial mover in comprehensive molecular profiling in oncology, Caris Molecular Intelligence™ is an industry vanguard, with 50,000-plus patients profiled and counting. (carislifesciences.com)
There is an urgent need to identify molecular signatures in small cell lung cancer (SCLC) that may select patients who are likely to respond to molecularly targeted therapies. (biomedcentral.com)
25 patients were successfully evaluated for all six pre-defined molecular aberrations. (biomedcentral.com)
Eleven patients failed all molecular analysis. (biomedcentral.com)
Molecular aberrations have been identified in patients with non-small cell lung cancer (NSCLC) over the past 10 years and revolutionised treatment strategies [ 13 ]. (biomedcentral.com)
Recent studies have begun to unravel molecular aberrations present in patients with SCLC [ 2 , 14 - 18 ]. (biomedcentral.com)
Although 107 out of 303 patients received a recommended treatment based on their mutational profile - a seemingly large proportion - the objective response rate was only 11% and this may be due to the fact that the alterations used to select the targeted therapy were very broad and thus inefficient. (esmo.org)

Anatomy8

Organisms19

Chemicals and Drugs59

Analytical, Diagnostic and Therapeutic Techniques and Equipment41

Phenomena and Processes110

Disciplines and Occupations7

Anthropology, Education, Sociology and Social Phenomena1

Technology, Industry, Agriculture1

Information Science24

Health Care9

Geographicals1

Mutation15

Genes10

Genome30

Polymerase chain re1

Mutations14

Tumors7

Clinical21

Humans1

Genetics1

Genomes6

Cancers4

Proteins2

Exons1

Spectrum2

Abstract1

Mice1

Heterogeneity5

Biopsy1

Characterization2

Bioinformatics3

Patient's tumor2

Next-generation5

Tumour3

Missense1

Functional2

Biology7

EGFR1

Identifies1

Genomic sequence1

Transcriptome1

Landscape1

Insights4

Biomarkers1

Epidemiology2

Receptors1

Clonal1

Deletional2

Exon1

Assays1

Routine2

Structural1

Immunohistochemistry1

Methods3

Biological2

Pathogen2

Hypoxia1

Complexity1

Translocation1

Gene expression3

Nanopore2

Patients11