Help databases genetic. Medical search. Frequent questions

NCBI Webinar: "Introducing dbVar, the NCBI Database of Large-Scale Genetic Variation" on May 13, 2015. (nih.gov)
On May 13th, 2015 NCBI staff will introduce dbVar, NCBI's database of genomic structural variation. (nih.gov)
Sequence variation is of scientific interest to population geneticists, genetic mappers, and those investigating relationships among variation and phenotype . (nih.gov)
In order to emphasize the comprehensive nature of dbSNP's content, the full name of the database was changed from "database of Single Nucleotide Polymorphism" to the more inclusive "database of Short Genetic Variation" in July of 2011. (nih.gov)
All investigators who receive NIH funding to conduct genome-wide analyses of genetic variation are expected to make their data available for secondary research. (nih.gov)
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. (nature.com)
Recent efforts to map human genetic variation by sequencing exomes 1 and whole genomes 2 , 3 , 4 have characterized the vast majority of common single nucleotide polymorphisms (SNPs) and many structural variants across the genome. (nature.com)
took his years of research on genetic variation and his passion for the movements of African peoplethroughout the world to create a new way for people across the Diaspora to reconnect with Africa and find their lost heritage. (africanancestry.com)

We'll be able to use the information people submit to validate new genetic and disease findings, discover new genetic mutation and genetic profiles, and drive future studies," says Stacey Knight, PhD, MStat, a cardiovascular and genetic epidemiologist at the Intermountain Medical Center Heart Institute. (intermountainhealthcare.org)
Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation screening from a primarily prevention arena delivered by specialist genetic services into mainstream oncology practice. (medscape.com)
Furthermore, we demonstrate that the transcriptional age acceleration computed from our within-tissue predictor is significantly correlated with mutation burden, mortality risk and cancer stage in several types of cancer from the TCGA database, and offers complementary information to DNA methylation age. (cdc.gov)
Is this RFA targeted to groups with existing human mutation databases? (genome.gov)
9 This perturbation can be a direct effect of a genetic mutation or can indirectly involve a genetic disturbance, such as in the case of gestational exposure to a teratogen. (aafp.org)

[ 1 ] These pathogenic variants are conventionally called 'mutations' or 'deleterious variants' in BRCA genetic testing parlance and the term pathogenic variant is used here for the sake of precision. (medscape.com)
The CRVR resource should be freely accessible to the public and NHGRI is committed to supporting the CRVR resource as long as there is sufficient evidence that the resource is improving the assessment of the clinical relevance of genetic variants, provides utility to the community and funds are available to continue the program. (genome.gov)
GeneMatcher is also part of the Matchmaker Exchange (http://matchmakerexchange.org/) with an Application Programing Interface enabling submitters to query other databases of genetic variants and phenotypes without having to create accounts and data entries in multiple systems. (nih.gov)
Using UK Biobank data, researchers found that genetic variants linked to increased reproductive capabilities coincided with shorter lifespan in individuals of European ancestry. (genomeweb.com)
Genetic associations for lipid traits have identified hundreds of variants with clear differences across European, Asian and African studies. (nature.com)

The presence of these accessory genes, which are often close homologs to primarily immobile genes, limits the usability of these databases for MGE annotation. (biorxiv.org)
NEIBank is a database of eye libraries and genes and proteins expressed in the eye and visual system maintained by the National Eye Institute (NEI). (nih.gov)
Although most of the genes that have been identified are associated with rare genetic disorders, genes that confer susceptibility to common diseases such as cancer, heart disease, and diabetes are also being discovered. (cdc.gov)
Development of an Open Database of Genes Included in Hereditary Cancer Genetic Testing Panels Available From Major Sources in the US. (bvsalud.org)
By performing a meta-analysis of transcriptional age signature across multi-tissues using the GTEx database, we identify 1,616 common age-related genes, as well as tissue-specific age-related genes. (cdc.gov)
In this study, we used systems genetic methods, statistical modeling, and immunostaining to identify and analyze candidate genes that modulate Hspa5 expression in the retina. (molvis.org)
Launched in September, 2013, GeneMatcher now has 2,178 candidate genes from 486 submitters spread across 38 countries entered in the database (June 1, 2015). (nih.gov)

The NIH has funded the isolation of mouse lines with selected genetic mutations affecting nervous system function and behavior. (nih.gov)
These include identifying as many genetic mutations as possible in different cancers, faster and more effective techniques for sequencing tumors, and new methods for more accurately matching treatments to patients and developing more targeted therapies. (cancer.org)
Ross Cagan, Ph.D., a researcher at Mount Sinai Hospital in New York and a leader in the field of personalized cancer treatment is taking one of the more creative approaches to personalized cancer treatment - he is using fruit flies, bred to mimic the genetic mutations in cancer patients. (cancer.org)
Although the causative genetic mutations are often known, mechanisms leading to photoreceptor degeneration remain poorly defined. (molvis.org)

Researchers from two independent research teams have discovered how the mislocalization of a protein, known as TDP-43, alters the genetic instructions for UNC13A, providing a possible therapeutic target that could also have implications in treating amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and other forms of dementia. (nih.gov)
Researchers will now have access to genetic data linked to medical information on a diverse group of more than 78,000 people, enabling investigations into many diseases and conditions. (nih.gov)
The data, from one of the nation's largest and most diverse genomics projects - Genetic Epidemiology Research on Aging (GERA) - have just been made available to qualified researchers through the database of Genotypes and Phenotypes (dbGaP), an online genetics database of the National Institutes of Health. (nih.gov)
The RPGEH then combined the genetic data with information derived from Kaiser Permanente's comprehensive longitudinal electronic medical records, as well as extensive survey data on participants' health habits and backgrounds, providing researchers with an unparalleled research resource. (nih.gov)
In addition to diseases and conditions traditionally associated with aging, such as cardiovascular disease, cancer and osteoarthritis, researchers can explore the potential genetic underpinnings of a variety of diseases that affect people in adulthood, including depression, insomnia, diabetes, certain eye diseases and many others representing a variety of disease domains. (nih.gov)
Researchers will also be able to use the database to confirm or disprove other studies that use data from relatively small numbers of people, as well as to increase the size and power of their samples by adding participants from GERA to meta-analyses. (nih.gov)
To populate the registry, Intermountain Researchers are asking adults from all over the world who have purchased direct-to-consumer DNA testing from commercial sites like AncestryDNA, MyHeritage, or 23andMe to voluntarily upload their raw and unprocessed genetic results, or genotypes to the GeneRosity Registry. (intermountainhealthcare.org)
All of the information will be stored in a secure database accessed only by researchers involved in the GeneRosity Registry. (intermountainhealthcare.org)
These data are now available for analysis by [qualified researchers via the dbGAP](http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000428.v1.p1) - the NIH Genotypes and Phenotypes online database. (agingcenters.org)
The Audiological and Genetic Database (AudGenDB) is a medical and research database resource that supports qualified researchers studying pediatric hearing health. (nih.gov)
The database draws information from several sources, including electronic health records, audiological instruments, radiological imagery, clinical genetics results, and genomics research records, and makes them accessible to researchers using a powerful, intuitive, web-based query interface. (nih.gov)
By establishing AudGenDB, researchers and clinicians can more effectively address how underlying genetic and environmental factors influence the effectiveness and outcome of patient-directed therapies and interventions. (nih.gov)
Alleged serial killer Joseph James DeAngelo was caught because one of his relatives submitted their DNA to an open-source genetic database for researchers called GEDMatch, which law enforcement used to match to DNA left at one of the crime scenes. (wilshiredetroit.com)
Connecting researchers with qualified volunteer control groups of IR Atomic Veterans or their descendants is a logical control group that, while scattered globally, they are willing to make their genetic contributions to studies and research projects. (childrenofatomicveterans.org)

The resulting database, mobileOG-db (for mobile orthologous groups), provides a simple and readily interpretable foundation for an array of MGE-centred analyses. (biorxiv.org)
We then used regression analyses to examine whether clinical and genetic variables had differential effects across clusters. (bmj.com)

however, no studies have integrated both genetic and clinical data from electronic health records (EHR) to identify SLE phenotypes using bioinformatic approaches. (bmj.com)

We now manage the world's largest genetic ark and database of coral genotypes. (coralrestoration.org)
Our nurseries have now become a vital repository of genetic diversity for corals whose populations are in a spiral of decline - our genetic ark comprises the world's largest genetic 'bank' of corals. (coralrestoration.org)
Our strength is based on owning the world's largest and most comprehensive database of African DNA. (africanancestry.com)

[ 7-9 ] Germline genetic testing for BRCA1 and BRCA2 for cancer risk prediction and management is routinely delivered by clinical genetics professionals but increasing demand is overwhelming the current delivery model with insufficient capacity among trained geneticists and genetic counsellor. (medscape.com)
Worse yet, several years ago, in 2007, Ancestry had acquired the DNA results of the customers of Relative Genetics and incorporated them into their Y and mtDNA database. (dna-explained.com)

State-of-the-art molecular techniques and resources are described that encompass a unique range of expertise in genetic mapping, trait dissection, comparative genomics, bioinformatics, gene discovery and risk assessment. (aber.ac.uk)
Groundbreaking gene therapy for genetic beta thalassemia is now accessible as a treatment to a patient post-FDA approval. (medindia.net)

There are demonstrable benefits in using ancestrally diverse populations in genetic-association studies. (nature.com)

I'm also leery of having this very small portion of my DNA in any company's database. (theopennotebook.com)
Can you delete your results from the company's database if you wish? (medlineplus.gov)

Variability between individuals' genetic code is common within the general population and between individuals of different ethnic background, and this intrinsic variability can lead to difficulties in interpreting some types of sequence change (see Figure 1 for more information). (medscape.com)
The fact is, we don't know how our genetic sequence will be used, who it will be accessed by, who will cross-reference it, or who it will be used to implicate now or many generations in the future. (wilshiredetroit.com)

To review how leveraging familial hypercholesterolemia registries can impact molecular genetic research and precision medicine. (nih.gov)
Genetic testing for familial hypercholesterolemia is becoming both more widely available and cheaper, spurring conversations about its clinical utility. (nih.gov)
Familial hypercholesterolemia epitomizes the goal of precision medicine to define a subset of individuals with a high risk of morbidity and mortality through genetic diagnosis to manage and treat the risk accordingly. (nih.gov)
Genetic cascade screening can be used to identify familial hypercholesterolemia patients at a younger age and start timely treatment to prevent CHD. (nih.gov)
I suggest that in the U.S., at least, it may make more sense to think about inherently familial genetic information through the lens of property law, with its ability to recognize and balance competing property interests in the same object, rather than privacy law, which tends to be fairly individualistic. (ssrn.com)

The aim is to facilitate effective identification of pediatric patients at high risk for congenital or late onset hearing loss, based on direct assessment of the audiologic and otologic features of children with all forms of hearing loss, and characterization of the genetic basis for hearing loss. (nih.gov)

Participants included geneticists, obstetricians, pediatricians, epidemiologists, teratologists, dysmorphologists, and genetic counselors who had a particular interest in CVS studies or who represented professional organizations and government agencies. (cdc.gov)
Genetic counselors can be invaluable in this regard. (aafp.org)

A recent systematic assessment of the transferability of an European genome-wide association study (GWAS) derived signals across ancestral groups highlighted these differences, especially in Africans, despite the shared genetic architecture for lipid traits 22 . (nature.com)

Data from this immense and ethnically diverse population will be a tremendous resource for science," said NIH Director Francis S. Collins, M.D., Ph.D. "It offers the opportunity to identify potential genetic risks and influences on a broad range of health conditions, particularly those related to aging. (nih.gov)
The genetic information in the GERA cohort translates into more than 55 billion bits of genetic data. (nih.gov)
The addition of genetic data provides a major new dimension for the study and is expected to result in much deeper insights into how we age," says Richard Hodes, director of the NIA. (agingcenters.org)
Methods We characterized subgroups of patients using sociodemographic and clinical EHR data, and genetic data from previously collected cohorts, for 416 individuals with SLE. (bmj.com)
Conclusions We identified three distinct subgroups of SLE via unsupervised clustering of sociodemographic and clinical variables derived from EHR and genetic data. (bmj.com)
A person's genetic data represent personal, private health information. (medlineplus.gov)
Once you take the test, who owns your genetic data? (medlineplus.gov)
How does the company safeguard your genetic data and other personal information that you provide? (medlineplus.gov)
Will the company share your genetic data or sell it to pharmaceutical or biotechnology companies, academic institutions, or nonprofit organizations? (medlineplus.gov)
If you do not want your genetic data shared, sold, or used for research, can you opt out? (medlineplus.gov)
Many companies now provide explicit information about whether and how your genetic data may be accessed by law enforcement officials. (medlineplus.gov)
If you upload your data to public databases, such as those administered by some third-party interpretation services , that information will be available to law enforcement. (medlineplus.gov)
Based on new methods in the area of genotyping, i.e. the determination of the genetic fingerprinting, the amount of complex data is increasing fast. (uibk.ac.at)
In spite of petitions and letters and pleas, from their customers, from the genealogy community and from the leaders in genetic genealogy, Ancestry did exactly what they said they would do - they deleted the Y and mtDNA data bases and in effect, destroyed the contents - tens of thousands of irreplaceable records, gone, forever. (dna-explained.com)
It's simply beyond me how a company that makes their living from rare historic records, like the census, for example, could be the one lighting the torch on something so valuable as a searchable database containing irreplaceable genetic data. (dna-explained.com)
We will encourage living Atomic Veterans to participate and register their results to add to the available genetic data for future research. (childrenofatomicveterans.org)
The ability to prove a family member's exposure, not to us, but to the research group(s) seeking access to archived genetic data is required. (childrenofatomicveterans.org)
Various research groups, or impacted countries, could more easily identify, monitor and track those willing to submit their genetic data, or make themselves available for more detailed studies. (childrenofatomicveterans.org)
An incomplete database includes missing data in some tuples, however, the proposed method can extract important rules using these tuples. (elsevierpure.com)
Is it possible for the NCBI ClinVar public archive to receive, store, and retrieve data generated from a resource supported by this RFA or should an applicant plan to create a separate database? (genome.gov)
Clearly, in order for personal genomic tests to make any difference in improving health, we need to conduct additional research on the benefits and harms of genetic tests in the same way we collect research data about other types of health information. (cdc.gov)
Facilitating Virtual Representation of CAD Data Through A Learning Based Approach to Conceptual Database Evolution Employing Direct Instance Sharing. (sigmod.org)

Quantitative trait locus (QTL) mapping was used to map the genomic region that regulates Hspa5 in the cross between C57BL/6J X DBA/2J mice (BXD) genetic reference panel. (molvis.org)
However, understanding the genomic architecture of lipid traits in Africans is currently dominated by studies on admixed African-ancestry individuals resident in the USA, who represent only a portion of the genetic diversity that exists on the continent. (nature.com)

In some cases, even if a testing service promises not to share your genetic information with others, they may be required by law to disclose the information to authorities in response to a warrant, court order, or other legal requirement. (medlineplus.gov)
We destroy 100% of your DNA samples & DO NOT sell or share your genetic info. (africanancestry.com)

I also write for The Washington Post , which just took a group of stories on hospice disparities, and for Psychology Today , which just took a story on ancestry genetic testing. (theopennotebook.com)
Whether you are curious about genetic ancestry, or are worried about health threats hidden in the family tree, there's a lot that you should know about home-DNA kits. (theopennotebook.com)
As the pioneers of genetic ancestry tracing for Black people globally, we can reconnect you to your specific African roots-the country and the people. (africanancestry.com)

The RPGEH database was made possible largely through early support from the Robert Wood Johnson Foundation to accelerate such health research. (nih.gov)
The dbSNP has been designed to support submissions and research into a broad range of biological problems that include the identification of genotype - phenotype relationships, genetic and physical mapping , functional analysis, pharmacogenomics, and association studies. (nih.gov)
Online discussion forums indicate there is a growing interst to add other qualified groups to this type of research database. (childrenofatomicveterans.org)
The Kurchatov Institute, which is best known for nuclear research, has been tasked with laying the foundation for the database, choosing the storage format and making tools for search and analysis. (lifeboat.com)
NEW YORK (GenomeWeb News) - Prometheus Research has been awarded a $700,000 Phase I grant by the National Institutes of Health's Small Business Innovation Research program to extend its Open Source Research Exchange Database, RexDB, a resource that supports research into autism spectrum disorders. (genomeweb.com)

abstract = "A method of class association rule mining from incomplete databases is proposed using Genetic Network Programming (GNP). (elsevierpure.com)

Genetic laboratories working with clinical geneticists need to agree on a clinically clear and uniform format for reporting BRCA test results to non-geneticists. (medscape.com)
7 , 8 Therefore, it is important for family physicians to be able to recognize general themes that can suggest the presence of a genetic syndrome and identify patients who would benefit from referral to clinical geneticists. (aafp.org)

I understand that DNA sequencing offers lots of promise as personalized medicine becomes more attainable, and that online DNA sequencing companies have likely helped some people learn that they have certain genetic diseases. (wilshiredetroit.com)
For example, CVS is generally done earlier in pregnancy than amniocentesis and is particularly advantageous for detecting certain genetic conditions. (cdc.gov)

The project will enable scientists to learn more about the genetic and environmental factors behind everyday diseases such as cancer, heart disease, and Alzheimer's disease. (worldhealth.net)
Background Systemic lupus erythematosus (SLE) is a multifactorial disease with genetic and environmental risk factors that encompass a wide range of disease severity and heterogeneous manifestations. (bmj.com)
They can only tell you whether your genetic risk is high or low, not whether or when you will get a disease like diabetes or Alzheimer's. (theopennotebook.com)

The resulting genetic and phenotypic repository, known as SFARI Base, also relies on RexDB technology. (genomeweb.com)

Variations are used as positional markers in genetic and physical mapping of nucleotide sequences when they map to a unique location in a genome . (nih.gov)
To overcome this limitation, we analysed 10,776,212 protein sequences derived from seven MGE databases to compile a comprehensive database of 6,140 manually curated protein families that are linked to the "life cycle" (integration, excision, replication/recombination/repair, transfer, and stability/defense) of all major classes of bacterial MGEs. (biorxiv.org)

This means HIPAA doesn't apply to many entities who may receive medical information, such as an app on your cell phone or a genetic testing service like 23andme. (eff.org)

See the results of this search (98 items ) in our new Identical Protein Groups database. (nih.gov)

In that case, the daughter of a deceased man whose genetic, ancestral and health information were scheduled to be included in a national database successfully argued that including her father's information infringed her own privacy, since information about her could be inferred from "his" genetic information. (ssrn.com)
The counselor should also discuss both the mother's and father's risk(s) for transmitting genetic abnormalities to the fetus. (cdc.gov)

Although family health history has been used in clinical practice for generations, as an aid to diagnose and manage hundreds of genetic disorders, it has its limitations, including lack of access to this information for many people. (cdc.gov)

Scientists at the National Institutes of Health have identified new genetic risk factors for two types of non-Alzheimer’s dementia. (nih.gov)
But there have been enough DNA-related snafus that have come to light in the last few weeks and years that make me think that willingly giving your DNA to a large database isn't worth the risk. (wilshiredetroit.com)
Consider the nationally known television personality , who-after taking a genetic test was told that his risk for prostate cancer was 30% lower than the average risk-said "thanks to this test, I don't have to have rectal exams. (cdc.gov)
Polygenic risk score analysis shows increased predictive accuracy for LDL-C levels with the narrowing of genetic distance between the discovery dataset and our cohort. (nature.com)

We additionally provide an MGE-class label for each entry (e.g., plasmid, integrative element) derived from the source database, and assign a list of keywords to each entry to delineate different MGE functional modules and to facilitate annotation. (biorxiv.org)

The GM Approval Database, or GMAD, is one of ISAAA's unique features that compiles all the available information about biotech/GM crops that have been approved for planting and importation for food and feed, and commercialization. (isaaa.org)

Family physicians should be able to recognize findings on physical examination and history that suggest the presence of a genetic syndrome to aid in the diagnosis and treatment of potentially affected patients, as well as subspecialty referral. (aafp.org)
Genetic subspecialists can assist family physicians in diagnosis, suggest additional testing and referrals if warranted, help direct medical care, and provide counseling for affected patients and their families. (aafp.org)
Figures 1A through 1I are examples of dysmorphic features that can be found on physical examination that may be helpful in the diagnosis of genetic syndromes. (aafp.org)

Currently available databases of bacterial mobile genetic elements (MGEs) contain both "core" and accessory MGE functional modules, the latter of which are often only transiently associated with the element. (biorxiv.org)
Inferring Functional Dependencies in Linerly Ordered Databases. (sigmod.org)

[ 5 , 6 ] The indications for germline genetic testing for BRCA1 and BRCA2 are further increasing to include directing cancer chemotherapy, novel targeted treatments and informing choices about the extent of therapeutic surgery. (medscape.com)
Safe integration of genetic counselling and testing to identify Hereditary Breast and Ovarian Cancer in mainstream oncology is an ongoing challenge. (medscape.com)

Clinicians, patients and their relatives would all benefit from an improved level of genetic literacy. (medscape.com)
Because everyone shares genetic similarities with their relatives, it may have implications not only for your own privacy but for that of people who are related to you. (medlineplus.gov)

Challenges exist at many levels but key are genetic literacy and genetic test outcome interpretation and reporting. (medscape.com)

Genealogy databases and the future of criminal investigation. (medlineplus.gov)
So the results of testing at two companies from the earliest days of genetic genealogy are gone - poof - up in smoke - not available for comparison or searching - the lynchpin of genetic genealogy. (dna-explained.com)

As information is added to the Kaiser-UCSF database, the dbGaP database will also be updated. (nih.gov)
Investigators who are interested in applying for access to this database should follow the procedures on the dbGaP website . (nih.gov)

Loosely defined, bioinformatics is the management and analysis of biological information contained in databases. (the-scientist.com)

These transcription-PCR (RT-PCR) of FMDV serotype O vi- techniques have helped define genetic relationships between ruses: O-1C244F/EUR-2B52R, O-1C272F/EUR-2B52R, FMDV isolates and geographic distribution of lineages and and O-1C283F/EUR-2B52R. (cdc.gov)

The proteins had modified the genetic code for eye color expression and hence the next generation of mosquitoes was born with lighter eye color. (medindia.net)

A Qualitative Approach to Integration in Spatial Databases. (sigmod.org)
Optimisation of Active Rule Agents Using a Genetic Algorithm Approach. (sigmod.org)

Participants have the opportunity to resister their genetic test/kit results if they wish to be involved or considered for future qualified studies. (childrenofatomicveterans.org)
Coordinating a global effort to grow a volunteer database that can be accessed in the long term to better understand the unintended consequences to the unborn, as well as improving the healthcare to existing and future generations. (childrenofatomicveterans.org)
The future database will be one of the tools that Russia hopes to use to assume a leading position in the biomedical industry. (lifeboat.com)

Generally, it is not easy for Aprior-like methods to extract important rules from incomplete database. (elsevierpure.com)

This chapter will focus on the use of the Internet as a method of disseminating genetic information for public health. (cdc.gov)
As a health and science writer specializing in genetic testing, I know what our DNA can tell us and what it can't, and I know the limitations of home DNA kits. (theopennotebook.com)
Reading your test report at home means that you have no immediate support from a health care specialist, such as a genetic counselor, if you're worried about or are surprised by what you find. (theopennotebook.com)
The health tests are not a genetic crystal ball. (theopennotebook.com)
1. Should genetic information be included in public health databases? (cdc.gov)
Although public health agencies are beginning to integrate genetic information in outbreak investigations and surveys, we do not know enough right now to use this information to mitigate adverse vaccine effects or target intervention strategies. (cdc.gov)
In this respect, genetic information is no different from other health-related information. (cdc.gov)

Shimada, K, Hirasawa, K & Hu, J 2007, Genetic network programming with class association rule acquisition mechanisms from incomplete database . (elsevierpure.com)

Understanding the genetic evolution of A [‎H1N1]‎pdm09 and H3N2 viruses can help better select strains to be included in the annual influenza vaccine. (who.int)
Program Understanding in Databases Reverse Engineering. (sigmod.org)

If you are considering direct-to-consumer genetic testing , it is important to know how the testing company will protect your information. (medlineplus.gov)

An Architecture for Nested Transaction Support on Standard Database Systems. (sigmod.org)
Design of Secure Distributed Medical Database Systems. (sigmod.org)

Organisms4

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