Some Relevant NCBI Resources for ASHG Conference Attendees
Genetic Testing Registry (GTR)
Genetic Testing Registry (GTR®) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials. The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease.
Medical Genetics Summaries
A growing collection of summaries which review genetic variants that underlie inherited conditions, affect the risk of developing a disease in the future, or influence how an individual may respond to a specific drug.
Variation Resources: dbSNP & dbVar
Resources for human genomic variations, including both common and rare short and large structural variations.
dbSNP contains human single nucleotide variations, microsatellites, and small-scale insertions and deletions along with publication, population frequency, molecular consequence, and genomic and RefSeq mapping information for both common variations and clinical mutations.
dbVar is a database of human genomic Structural Variation, including large (>50 bp) insertions, deletions, duplications, inversions, mobile elements, translocations, and complex variants.
Foreign Contamination Screen (FCS)
The NCBI Foreign Contamination Screen (FCS) is a tool suite for identifying and removing contaminant sequences in genome assemblies. Contaminants are defined as sequences in a dataset that do not originate from the biological source organism and can arise from a variety of environmental and laboratory sources. FCS will help you remove contaminants from genomes before submission to GenBank.
GenBank
GenBank® is the NIH genetic sequence database, an annotated collection of all publicly available DNA sequences. GenBank is part of the International Nucleotide Sequence Database Collaboration, which comprises the DNA DataBank of Japan (DDBJ), the European Nucleotide Archive (ENA), and GenBank at NCBI. These three organizations exchange data on a daily basis.
PubChem
PubChem is an open chemistry database at the National Institutes of Health (NIH), where you can put your scientific data in PubChem and that others may use it. Since the launch in 2004, PubChem has become a key chemical information resource for scientists, students, and the general public. Its website and programmatic services provide data to millions of users worldwide.
Sequence Read Archive (SRA)
Sequence Read Archive data, available through multiple cloud providers and NCBI servers, is the largest publicly available repository of high throughput sequencing data. The archive accepts data from all branches of life as well as metagenomic and environmental surveys. SRA stores raw sequencing data and alignment information (if submitted) to enhance reproducibility and facilitate new discoveries through data analysis.
Last Reviewed: September 5, 2024