Category Archives: Database of Genotypes and Phenotypes (dbGaP)
Using NCBI Resources for Genotype-Based Medication Optimization
NCBI offers a variety of clinical genetic resources to help you research, diagnose, and treat diseases and conditions. You can quickly and easily access our data and tools through the Medical Genetics and Human Variation page of the NCBI website. How and why should you use our resources? Consider the example below. Your patient is … Continue reading Using NCBI Resources for Genotype-Based Medication Optimization
dbGaP: Making it Easier to Find Study Data with Third-Party Annotations
The database of Genotypes and Phenotypes (dbGaP) is a free resource that contains human data from a variety of large-scale studies. While you can’t view individual-level data without applying for controlled access, you can easily find dbGaP studies using the dbGaP Advanced Search (see screenshot below) and quickly filter studies based on study variables, molecular … Continue reading dbGaP: Making it Easier to Find Study Data with Third-Party Annotations
Posted by in Database of Genotypes and Phenotypes (dbGaP), What's New
New dbGaP Subject Sample Telemetry Report Now Available
What is it and why does it matter? The Database of Genotypes and Phenotypes (dbGaP) has been used for over a decade to safely store and provide access to anonymized patient-level data related to research studies. Now you can get a Subject Sample Telemetry Report (SSTR) providing you more details about a dbGaP submission. With … Continue reading New dbGaP Subject Sample Telemetry Report Now Available
Posted by in Database of Genotypes and Phenotypes (dbGaP), What's New
Submit your data to dbGaP in 3 easy steps!
Do you have human genetic data from a large-scale study? Submit your data to NCBI’s Database of Genotypes and Phenotypes (dbGaP) to contribute to meaningful discoveries about health. dbGaP contains data from more than 2.8 million study participants who have provided over 3.3 million molecular samples. How do I submit data to dbGaP? Step 1: … Continue reading Submit your data to dbGaP in 3 easy steps!
Posted by in Database of Genotypes and Phenotypes (dbGaP), What's New
Submit your data to dbGaP in 3 easy steps!
Do you have human genetic data from a large-scale study? Submit your data to NCBI’s Database of Genotypes and Phenotypes (dbGaP) to contribute to meaningful discoveries about health. dbGaP contains data from more than 2.8 million study participants who have provided over 3.3 million molecular samples. How do I submit data to dbGaP? Step 1: … Continue reading Submit your data to dbGaP in 3 easy steps!
Posted by in Database of Genotypes and Phenotypes (dbGaP), What's New
dbGaP: Data and analyses from millions of study participants, samples, and trillions of genotypes!
Leveraging the power of big data to make meaningful discoveries about health Are you familiar with the well-known Framingham Heart Study, a multi-generation study of residents of Framingham, Massachusetts begun in 1948? Much of what is now known about the impact of genetics, lifestyle, and diet on cardiovascular health and disease has come from this research … Continue reading dbGaP: Data and analyses from millions of study participants, samples, and trillions of genotypes!
Connect with NCBI at ASHG 2022
Join us October 25-29 in Los Angeles, CA We are looking forward to seeing you in-person at the American Society of Human Genetics (ASHG) annual meeting, October 25-29, 2022, in Los Angeles, California. We will present a variety of talks and posters featuring our clinical and human genetic resources, as well as genome products and … Continue reading Connect with NCBI at ASHG 2022
Posted by in Basic Local Alignment Search Tool (BLAST), Comparative Genomics Resource (CGR), Database of Genotypes and Phenotypes (dbGaP), Datasets, Gene, Genome Data Viewer (GDV), Matched Annotation from NCBI and EMBL-EBI (MANE), MedGen, medical genetics, Multiple Sequence Alignment Viewer (MSAV), What's New
Using NCBI resources to research, detect, and treat genetic phenotypes
Clinical Genetics Information at Your Fingertips NCBI offers a portfolio of medical genetics resources to help you research, diagnose, and treat diseases and conditions. You can easily access our data and tools through the Medical Genetics and Human Variation page of the NCBI website. We also encourage you to join our community of thousands of … Continue reading Using NCBI resources to research, detect, and treat genetic phenotypes
The post Using NCBI resources to research, detect, and treat genetic phenotypes appeared first on NCBI Insights.
Posted by in ACMG2022, clinicaltrials.gov, ClinVar, Database of Genotypes and Phenotypes (dbGaP), dbGaP Allele Frequency Aggregator (ALFA), GeneReviews, Genetic Testing Registry (GTR), MedGen, Medical Genetic Summaries (MGS), medical genetics, Single Nucleotide Polymorphism Database (dbSNP), What's New
Three outdated browsers (1000 Genomes, dbGaP Data, and Get-RM) to retire in April 2022. Data available in GDV
The Genome Data Viewer (GDV) is now the comprehensive NCBI genome browser. The development of GDV led to a few different types of genome browsers along the way, each one originally delivering visual displays for particular datasets. We developed the 1000 Genomes Browser for variation data from the 1000 Genomes project, the dbGaP Data Browser … Continue reading Three outdated browsers (1000 Genomes, dbGaP Data, and Get-RM) to retire in April 2022. Data available in GDV
Nov 3 Webinar: dbGaP submission improvements and GaPTools
Attention dbGaP submitters! Join us on November 3, 2021 at 12PM US eastern time to learn about data submission and processing improvements to dbGaP, NIH’s database of Genotype and Phenotype, which contains individual-level data associated with human research studies. You will see how we have made submission easier through the Submission Portal using automated preliminary … Continue reading Nov 3 Webinar: dbGaP submission improvements and GaPTools