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Molecular biology/Genetics
External Link
The Consensus CDS (CCDS) project is a collaborative effort to identify a core set of human and mouse protein coding regions that are consistently annotated and of high quality. The long term goal is to support convergence towards a standard set of gene annotations.
Tags dataset genetics genomics protein
Updated
November 4 2024
Views
13,087

Molecular biology/Genetics
External Link
Database of Genomic Structural Variation (dbVar) is NCBI's database of human genomic Structural Variation — large variants >50 bp including insertions, deletions, duplications, inversions, mobile elements, translocations, and complex variants.
Tags dataset genetics genomics tools & utilities
Updated
November 4 2024
Views
13,277

Molecular biology/Genetics
External Link
Database of Genotype and Phenotype (dbGaP) was developed to archive and distribute the data and results from studies that have investigated the interaction of genotype and phenotype in Humans.
Tags dataset genetics genomics software tools & utilities
Updated
November 4 2024
Views
12,902

Molecular biology/Genetics
External Link
Database of Short Genetic 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.
Tags api dataset genetics genomics tools & utilities
Updated
November 4 2024
Views
13,206

Molecular biology/Genetics
External Link
NIH Genetic sequence database; an annotated collection of all publicly available DNA sequences.
Tags genetics genomics
Updated
November 4 2024
Views
13,707

Molecular biology/Genetics
External Link
Genetic Testing Registry (GTR) is a free, centralized voluntary registry of comprehensive genetic test information covering clinical and research tests for Mendelian disorders and drug responses including multigenic, array-based, biochemical, cytogenetic, and molecular tests.
Tags genetics genomics tools & utilities
Updated
November 4 2024
Views
13,064

Terminology
External Link
MedGen is NCBI's portal to information about conditions and phenotypes related to Medical Genetics. Terms from the NIH Genetic Testing Registry (GTR), UMLS, HPO, Orphanet, ClinVar and other sources are aggregated into concepts, each of which is assigned a unique identifier and a preferred name and symbol. The core content of the record may include names, identifiers used by other databases, mode of inheritance, clinical features, and map location of the loci affecting the disorder. The concept identifier (CUI) is used to aggregate information about that concept, similar to the way NCBI Gene serves as a gateway to gene-related information.
MedGen provides links to such resources as: Genetic tests registered in the NIH Genetic Testing Registry (GTR), GeneReviews, ClinVar, OMIM, Related genes, Disorders with similar clinical features, Medical and research literature, Practice guidelines, Consumer resources, Ontologies such as HPO and ORDO.
Links to the GTR, GeneReviews, and Practice Guidelines are based on curation by NCBI staff. Other data feeds are automated, but reviewed by NCBI staff and informed by feedback from the community.
Tags dataset genetics genomics
Updated
July 19 2024
Views
7,223

Molecular biology/Genetics
External Link
Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes.
Tags api genetics genomics
Updated
July 19 2024
Views
6,297

Molecular biology/Genetics
External Link
Supports finding human phenotype/genotype relationships with queries by phenotype, chromosome location, gene, and SNP identifiers. Currently includes information from dbGaP, the National Human Genome Research Institute (NHGRI) genome-wide association study (GWAS) Catalog, and Genotype - Tissue Expression (GTeX).
Tags genetics genomics tools & utilities
Updated
September 30 2022
Views
5,675

Molecular biology/Genetics
External Link
The PopSet database is a collection of related DNA sequences derived from population, phylogenetic, mutation and ecosystem studies that have been submitted to GenBank.
Tags api genetics genomics
Updated
July 19 2024
Views
4,330