Genomic profiling. Medical search. Frequent questions

Next-generation sequencing tests can gauge four classes of genomic alterations, but the Medicare contractor said it would cover non-NGS-based tests as long as they could also assess these markers and perform on par with CGPs. (genomeweb.com)
CGP utilises next-generation sequencing (NGS) to detect the main classes of genomic alterations and signatures in the full exonic region of genes known to drive cancer growth and identify patient eligibility for clinical trials, targeted therapies, and immunotherapies. (ddw-online.com)

The median number of identified genomic alterations (GAs) per patient was 4.5 (range 1-23). (nih.gov)
Treatments targeted various genomic findings including EGFR alterations, mTOR activation, cell cycle targets and FGFR1 mutations. (nih.gov)
The report also highlights important disease-relevant genes with no reportable alterations identified and genomic alterations associated with potential resistance to therapy to help rule out potentially ineffective treatment. (foundationmedicine.in)
In this month's "Virtual Lecture," Kevin Halling, M.D., Ph.D., discusses the evolution of clinical laboratory molecular testing over the past 40 years and the types of alterations that are detected by solid tumor comprehensive genomic profiling. (mayocliniclabs.com)
Discuss the types of alterations that are detected by solid tumor comprehensive genomic profiling. (mayocliniclabs.com)
Globally, 46 penile carcinoma samples were considered to evaluate DNA copynumber alterations via array comparative genomic hybridization (aCGH) combined with human papillomavirus (HPV) genotyping. (fapesp.br)
Genomic alterations mapped at 3p and 8p were related to worse prognostic features, including advanced T and clinical stage, recurrence and death from the disease. (fapesp.br)
Genomic alterations detected for chromosome 3 (LAMP3, PPARG, TNFSF10 genes) and 8 (DLC1) were evaluated by qPCR. (fapesp.br)
As a specific example, many patients with metastatic non-small cell lung cancer are automatically deferred to immunotherapy due to a lack of tissue material for evaluation of their genomic alterations. (precisionmedicineonline.com)

In order to identify and compare the genomic profiles, we analyzed array-based comparative genomic hybridization (array-CGH) profiles of 66 liposarcomas, including well-differentiated (WDLPS), dedifferentiated (DDLPS) and myxoid (MLPS) subtypes. (biomedcentral.com)
Seventeen ETV6/RUNX1-positive pediatric acute lymphoblastic leukemias were investigated by high-resolution array-based comparative genomic hybridization ( array CGH), gene expression profiling and fluorescence in situ hybridization. (lu.se)

As such, profiling the tumor at one time for multiple molecular characteristics would be the best use of limited resources. (genomeweb.com)
He also summarizes the clinical utility of solid tumor comprehensive genomic profiling. (mayocliniclabs.com)
Our ability to manage, prevent and treat fibropapillomatosis is severely hampered by a lack of knowledge of the disease's triggers and the genomic events driving tumor formation and growth. (nature.com)
CIENCIASMEDICASNEWS: Patient preferences regarding incidental genomic findings discovered during tumor profiling. (blogspot.com)
During the process of tumor profiling, there is the potential to detect germline variants. (blogspot.com)
The goal of the current study was to assess disclosure preferences among patients with cancer regarding incidental genomic variants that may be discovered during tumor profiling. (blogspot.com)
The survey captured demographic and disease variables and personal and family history, and presented case scenarios for different types of incidental germline variants that could theoretically be detected during genomic analysis of a patient's tumor. (blogspot.com)
The possibility of discovering non-cancer-related, germline variants did not deter patients from tumor profiling: 77% wanted to be informed concerning variants that could increase their risk of a serious but preventable illness, 56% wanted to know about variants that cause a serious but unpreventable illness, and 49% wanted to know about variants of uncertain significance. (blogspot.com)
Aruga J, Yokota N, Mikoshiba K. Human SLITRK family genes: genomic organization and expression profiling in normal brain and brain tumor tissue. (medlineplus.gov)
Genomic instability in silica- and cadmium chloride-transformed BALB/c-3T3 and tumor cell lines by random amplified polymorphic DNA analysis. (cdc.gov)
Non-transformed, transformed BALB/c-3T3 cells, and tumor cell lines (obtained by injecting nude mice with transformed cell lines) were analyzed for genomic changes. (cdc.gov)
Comparison of all 10 transformed and tumor cell lines showed varied degrees of genomic changes using all 10 primers. (cdc.gov)

The PMWC 2023 Genomic Profiling Showcase will provide a 15 min speaking opportunity for selected companies working with the latest technologies in nucleic acid sequencing such as NGS, providing instrumentation for genomic sequencing, and offering direct to consumer services. (pmwcintl.com)

We performed capture-based next generation sequencing (NGS) genomic analysis assay of 236/315 cancer-associated genes, with average depth of over 1000 fold, to guide treatment in HGG patients. (nih.gov)
The implementation of comprehensive genomic profiling has however been much more complex, with most gene panels comprised of hundreds of genes and applied to populations unselected by cancer type. (oncotarget.com)
Using chromatin accessibility profiling, we observe that AP1 transcriptional regulation is enriched when both TCR and CD28 are engaged, whereas open chromatin near CD28-sensitive genes is enriched for NF-kB motifs. (ox.ac.uk)
Oncologica's Next generation sequencing platform captures 764 of the leading anti-cancer targeted medicine drug combinations and immunotherapies via analysis of actionable genomic mutations across 505 genes. (businesswire.com)
We showed that the metabolite profiles of males and females are significantly different and, furthermore, that specific genetic variants in metabolism-related genes depict sexual dimorphism," co-corresponding author Thomas Illig, a molecular epidemiology researcher at the German Research Center for Environmental Health, and co-authors wrote. (genomeweb.com)
Comparing the array CGH and gene expression patterns revealed that genomic imbalances conferred a great impact on the expression of genes in the affected regions. (lu.se)
By studying the expression profile and the proposed function of genes in the minimally gained region, several candidate target genes (SPANXB, HMGB3, FAM50A, HTATSF1 and RAP2C) were identified. (lu.se)

Phase Genomics applies proprietary proximity ligation technology to enable chromosome-scale genome assembly, metagenomic deconvolution, as well as analysis of structural genomic variation and genome architecture. (pmwcintl.com)
09/06851-7 - Large-scale genomic copy number variation and gene expression in penile carcinomas. (fapesp.br)
Variation in the repetitiveness of genomic texts reflects the presence and density of different biologically important messages. (haifa.ac.il)

The Genomic Profiling Showcase will exhibit the latest innovations in methods and instruments used for DNA/ RNA sequencing to ascertain the genomic and transcriptional profile of a person in order to understand why some people get certain diseases while others do not, or why people react in different ways to the same drug. (pmwcintl.com)

abstract = "Motivation: One of the major features of genomic DNA sequences, distinguishing them from texts in most spoken or artificial languages, is their high repetitiveness. (haifa.ac.il)

In the second study, we explore the feasibility of gene expression profiling from RNA isolated from matched pancreatic juice and tumour tissue in patients with pancreatic cancer and pancreatic cystic tumours. (manchester.ac.uk)
To deconvolute how the T-cell receptor (TCR) and CD28 orchestrate activation of human T cells, we stimulate cells using varying intensities of TCR and CD28 and profiled gene expression. (ox.ac.uk)

Besides, large derivative log ratio spread (DLRS) of the probes correlating with poor DNA quality is sometimes observed in genome screening experiments and may lead to unreliable copy number profiles. (uzh.ch)
In an Australian context, the Australian Pancreatic Genome Initiative published a practical framework for communicating genomic research results, including informed consent, analytical validity, clinical relevance of results and results communication. (oncotarget.com)
Our program utilizes suffix trees to compute the number of subwords present in genomic sequences, thereby allowing calculation of linguistic complexity in time linear in genome size. (haifa.ac.il)
Christopher Douse explores the repetitive portion of the human genome, so-called 'genomic dark matter', and its role in human brain development and degeneration. (lu.se)
This award includes a $1.2 million grant to support his lab's exploration of the repetitive portion of the human genome, so-called 'genomic dark matter', and its role in human brain development and degeneration. (lu.se)

The purpose of this study is to highlight the application of sparse logistic regression models in dealing with prediction of tumour pathological subtypes based on lung cancer patients' genomic information. (whiterose.ac.uk)
Our molecular testing capabilities now cover cancer screening, tumour DNA sequencing, Covid -19 mutation profiling and allergen testing, with over 5 million genetic health tests performed during the last two years. (businesswire.com)

A nationwide drug-resistant TB survey was conducted during 2012-2013 by the Myanmar National Tuberculosis Programme (NTP) to identify the drug susceptibility profile for first-line drugs (phenotypic drug susceptibility testing for second-line drugs was established during 2016) ( 2 ). (cdc.gov)
Such sequence-based, drug-resistant profiles have high concordance with phenotypic DST ( 3 , 4 ). (cdc.gov)
Combining genomic analyses with functional profiling (phenotypic analyses) provides the opportunity to turn speculative observations into actionable events. (nagourneycancerinstitute.com)
In summary, we have performed an initial genomic and phenotypic characterization of a new wild-derived inbred mouse strain resource We show that these strains harbor a significant number of novel variants that are not captured in existing panels of classical inbred strains, many of which could be useful in the context of disease-modeling and complex trait genetics. (jax.org)

In this study, we assessed the genomic profile aiming at identifying potential prognostic biomarkers in penile carcinoma. (fapesp.br)
While the list of actionable biomarkers and US Food and Drug Administration (FDA)-approved molecularly guided therapies grows, comprehensive genomic profiling (CGP) assays, which test for hundreds of genomic biomarkers using next-generation sequencing, will play an important role in improving healthcare efficiency and making precision oncology a reality for all patients. (precisionmedicineonline.com)
The 2024 predictions include 15 approved genomic biomarkers that may be targetable with particular therapies across all cancer types, more than 1.5 times the number approved by 2022 ( see figure 2 ). (precisionmedicineonline.com)
As an example, in non-small cell lung cancer, the number of genomic biomarkers that may be targetable with particular therapies is expected to be 21 by 2024 ( see figure 3 ). (precisionmedicineonline.com)

Since joining Labcorp, he oversaw the acquisitions of OmniSeq and PGDx expanding Labcorp's leading oncology portfolio of NGS-based genomic profiling capabilities. (pmwcintl.com)
Genomic profiling has gained popularity in medical oncology. (nagourneycancerinstitute.com)

Our clear, in-depth report supports clinical decision-making by providing insights on the patient's genomic profile as well as associated targeted therapies, immunotherapies and relevant clinical trials. (foundationmedicine.in)
This enables comprehensive DNA profiling to be undertaken in the routine initial diagnostic workflow to link detected mutations to a broad range of potential genomic targeted therapies and immunotherapies, rather than wait to see if standard treatments fail to control the disease. (businesswire.com)

NEW YORK (GenomeWeb News) - A metabolomic study appearing online last night in PLoS Genetics suggests that differences exist between men and women in metabolite profiles as well as in the genetic variants behind these profiles. (genomeweb.com)
Even so, they argue that sexual dimorphism may have an under-appreciated impact on the genomic and metabolomic patterns explored by such studies. (genomeweb.com)

NEW YORK (GenomeWeb) - In a draft local coverage determination issued last month, Palmetto's MolDx program proposed coverage for comprehensive genomic profiling (CGP) of advanced non-small cell lung cancer patients whose tumors have turned up negative for well-known EGFR mutations or EML4-ALK translocations. (genomeweb.com)
The European Confederation of Pharmaceutical Entrepreneurs (EUCOPE), Exact Sciences, Guardant Health, Illumina, MSD and Novartis have come together to launch the European Coalition for Access to Comprehensive Genomic Profiling (ECGP). (ddw-online.com)
It is hoped that the Coalition will improve cancer care through increased routine clinical access and reimbursement of Comprehensive Genomic Profiling (CGP) in Europe. (ddw-online.com)
Access to comprehensive genomic profiling in Europe is limited, with European cancer patients not having access to potentially life-changing targeted cancer treatments because current funding and reimbursement frameworks do not allow for routine testing for all relevant cancer mutations. (ddw-online.com)
Next generation sequencing (NGS)-based comprehensive genomic profiling has emerged as a powerful tool for the large-scale detection of genomic changes. (q2labsolutions.com)
experiences with consenting, interpreting and communicating comprehensive genomic profiling (CGP) results to patients. (oncotarget.com)
15-16 The validations of Foundation Medicine's comprehensive genomic profiling services are published in top-tier peer-reviewed journals. (foundationmedicine.in)
Comprehensive genomic profiling provides prognostic, diagnostic and predictive insights that inform treatment decisions for individual patients across all cancer types. (foundationmedicine.in)
Oncologica's comprehensive NGS DNA profiling with linkage to targeted therapies provides detailed genomic blueprints that optimize therapy choices, improve health outcomes and help people avoid treatment unlikely to be of benefit. (businesswire.com)

A "hit" by the EVA-PCD functional profiling assay would then isolate the "drivers" from the "passengers" and enable the clinician to intelligently select effective treatments. (nagourneycancerinstitute.com)

Beyond this, the contribution of smaller genomic imbalances (copy number variants) or common single nucleotide variants and their impact on gene regulation in the placenta, for example through DNA methylation, remains largely unexplored. (ubc.ca)
In this thesis, I hypothesized that placental genomic imbalances, including aneuploidy and copy number variants (CNVs), and candidate single nucleotide variants in a gene relevant to DNA methylation (DNAme) are associated with poor fetal growth and/or altered placental DNAme. (ubc.ca)

Our personalised DNA profiling is used to aid identification of the most appropriate targeted therapies for patients with cancer as an alternative to chemotherapy. (businesswire.com)

The objective of this study was to estimate the genetic parameters for FA under conditions of thermal stress (decline) and without thermal stress (intercept), subsequently to compare genomic values between rankings (intercept and decline). (usp.br)
Correlations between the rankings of genomic genetic values ranged from -0.27 to 0.99. (usp.br)
Recent studies have provided new information about individuals' metabolite profiles, genetic variants associated with these profiles, and some of their biological consequences, the researchers explained. (genomeweb.com)

NSCLC or small cell lung cancer), there is very little or no tissue left for further genomic testing. (genomeweb.com)

van Gils, W 2008, ' Molecular prognostic markers in uveal melanoma: expression profiling and genomic studies ', Erasmus University Rotterdam. (eur.nl)

We also showed a specific genomic profile according to HPV infection, supporting the hypothesis that penile tumors present distinct etiologies according to virus status. (fapesp.br)
Our recent Communications Biology research article revealed the genomic drivers and therapeutic vulnerabilities of sea turtle fibropapillomatosis tumors. (nature.com)
The DDLPS-associated losses were much more common in tumors with increased genomic complexity. (biomedcentral.com)
Our findings show that the application of array-CGH allows to delineate clearly the genomic profiles of WDLPS, DDLPS and MLPS that reflect biological differences between these tumors. (biomedcentral.com)
Although CNAs varied widely, the subtypes of tumors have characteristic genomic profiles that could facilitate the differential diagnosis of LPS subtypes, especially between WDLPS and DDLPS. (biomedcentral.com)
Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors. (who.int)

DNA copy number profiles from microarray and sequencing experiments sometimes contain wave artefacts which may be introduced during sample preparation and cannot be removed completely by existing preprocessing methods. (uzh.ch)

Do these results indicate that genomic analyses should be used for treatment selection in all patients? (nagourneycancerinstitute.com)

this study provides insight into how Australian oncologists are coping in the era of precision medicine, and their perceptions of potential barriers to the clinical translation of genomic output. (oncotarget.com)

Forty-three patients were profiled: 34 glioblastomas, 8 anaplastic astrocytomas, and one patient with anaplastic oligodendroglioma. (nih.gov)
Twenty-five patients were profiled with the 315 gene panel. (nih.gov)
According to the draft LCD, Medicare will cover genomic profiling for metastatic NSCLC patients who are non-smokers or fomer light smokers, defined as people who have a 15 or fewer pack-year history ( see clarification note at the end of the article ). (genomeweb.com)
These new genomic targeted drugs have greater specificity and reduce toxic effects for patients compared to conventional chemotherapy. (businesswire.com)

HPV infection was detected in 34.8% of the samples, and 19 differential genomic regions were obtained related to viral status. (fapesp.br)

Linguistic complexity corresponds to repetitiveness of a genomic text, and potential regulatory sites may be discovered through construction of typical patterns of complexity distribution. (haifa.ac.il)
In addition, local profiles of complexity distribution around the starts of translation were constructed for 21 complete prokaryotic genomes. (haifa.ac.il)
We hypothesize that complexity profiles correspond to evolutionary relationships between organisms. (haifa.ac.il)
However, most reports provide insufficient quality information to confirm the reliability of genomic testing owing to the complexity of the NGS process. (jmir.org)

We also found characteristic differences in profiles of AT genomes, which probably reflect individual species variations in translational regulation. (haifa.ac.il)

This app could also motivate laboratories to perform diagnostic tests to provide high-quality genomic data. (jmir.org)

Sequence analysis showed that these "young" Alu insertions represented gene conversion events of pre-existing ancient Alu elements or independent parallel insertions of older Alu elements in the same genomic region. (ojp.gov)

BACKGROUND: Proteomic profiling could potentially disclose new pathophysiological pathways for cardiovascular diseases (CVD) and improve prediction at the individual level. (lu.se)

We consider sparse logistic regression models to deal with the high dimensionality and correlation between genomic regions. (whiterose.ac.uk)

CNARA could be instrumental in improving the assessment of data used for genomic data mining experiments and support the reliable functional attribution of copy number aberrations especially in cancer research. (uzh.ch)

Oncologica is a world leading precision cancer medicine and genomic contract research laboratory based in Cambridge, UK. (businesswire.com)

Genomic research of high grade glioma (HGG) has revealed complex biology with potential for therapeutic impact. (nih.gov)
The objectives of this population-based study were to investigate the potential association between bone mineral density (BMD) and serum lipid profiles and to compare the effects of serum lipids on BMD at various skeletal sites in pre- and post-menopausal women. (who.int)

Does genomic profiling to assess Type 2 Diabetes risk improve. (cdc.gov)

Genomic confirmatory factor analysis on milk fatty acid profile in dairy cattle reared. (usp.br)
Could you help me a question about survival analysis.In clinical, i want to updata survival function in a dynamic way but lack of multiple gene values to fit such a longitudinal model,so i want to use landmark approach to update the prognosis.However, i am not sure whether a genomic variable is a time-varying effect covariate,which means the effect of the gene might vary with time. (biostars.org)
I was reminded of this question as I reviewed a genomic analysis reported to one of my colleagues. (nagourneycancerinstitute.com)

These genomic predictors of the response ofV̇ O2max to regular exercise provide new targets for the study of the biology of fitness and its adaptation to regular exercise. (wustl.edu)
Walking into the Carl R. Woese Institute for Genomic Biology can be intimidating. (illinois.edu)

experiences and needs when utilising genomic results. (oncotarget.com)
As the number of requests for NGS genomic testing increases, substantial efforts have been made to deliver the testing results clearly and unambiguously. (jmir.org)
For the legitimacy of clinical NGS genomic testing, quality information from the process of producing genomic data should be included within the results. (jmir.org)

Genomic profiling of T-cell activation suggests increased sensitivity of memory T cells to CD28 costimulation. (ox.ac.uk)
odoriferum was shown to harbor numerous pseudogenes, which suggests low coding capacity and genomic degradation. (mdpi.com)

The NGS genomic testing reports provide information regarding genomic variations and related data. (jmir.org)

This is the final report on the NIJ-sponsored "LINE Elements" project, whose stated goal was to "identify 'young' polymorphic Ta LINE elements and develop these elements as markers for forensic DNA profiling. (ojp.gov)

We define four features that adequately summarize the copy number profiles for reliability assessment, and train a classifier on a dataset of 1522 copy number profiles from various microarray platforms. (uzh.ch)
The method can be applied to predict the reliability of copy number profiles irrespective of the underlying microarray platform and may be adapted for those sequencing platforms from which copy number estimates could be computed as a piecewise constant signal. (uzh.ch)

The user can share the quality information of NGS genomic testing and verify the quality status of individual samples in the overall distribution. (jmir.org)
CONCLUSIONS: Protein profiling in multiple samples disclosed several new proteins to be associated with subsequent myocardial infarction, stroke, and heart failure, suggesting common pathophysiological pathways for these diseases. (lu.se)

A draft of this profile will be made available for public comment in 2016. (cdc.gov)

Here, we propose a method to distinguish reliable genomic copy number profiles from those containing heavy wave artefacts and/or large DLRS. (uzh.ch)
We have developed a method for the assessment of genomic copy number profiling data, and suggest to apply the method in addition to and after other state-of-the-art noise correction and quality control procedures. (uzh.ch)

We found principal differences in profiles of the GC-rich and other (non-GC-rich) genomes. (haifa.ac.il)

Anatomy11

Organisms9

Diseases7

Chemicals and Drugs38

Analytical, Diagnostic and Therapeutic Techniques and Equipment58

Phenomena and Processes120

Disciplines and Occupations10

Anthropology, Education, Sociology and Social Phenomena1

Technology, Industry, Agriculture2

Information Science12

Health Care6

Classes of genomic alterations2

Alterations9

Array-based comparative genomic hybri2

Tumor12

20231

Genes7

Variation3

Transcriptional1

Abstract1

Gene expression2

Genome5

Tumour2

Phenotypic4

Biomarkers4

Oncology2

Immunotherapies2

Metabolomic2

Comprehensive9

Assay1

Imbalances2

Therapies1

Genetic3

Lung cancer1

Prognostic1

Tumors6

Methods1

Analyses1

Precision medicine1

Patients4

Differential1

Complexity4

Characteristic1

Diagnostic1

Insertions1

Prediction1

Correlation1

Functional1

Medicine1

Potential2

Assess1

Analysis3

Biology2

Results3

Suggests2

Variations1

Markers1

Reliability2

Samples2

Draft1

Copy2

Differences1