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Bioinformatics, Genetics and Computational Biology: Genetic Variation
Databases and resources focused on molecular biology, genetics, genomes, and related biological data.
dbSNP: Database of Single Nucleotide Polymorphisms
Also includes small-scale variations such as insertions/deletions, microsatellites, and non-polymorphic variants. Usually <50 bps in length.
Information about the relationship between sequence variations and human health
Database of genomic structural variation (inversions, balanced translocations, genomic imbalances (in/dels), copy number variants). Usually >50bps in length.
dbMHC: Major Histocompatibility Complex
DNA and clinical data on the human MHC
dbLRC: Leukocyte Receptor Complex
DNA sequences and typing reagents for the human LRC, including killer cell immunoglobulin-like receptors (KIR) and leukocyte Ig-like receptor (LILR)
The International HapMap Project is a 6 country effort to identify and catalog genetic variation in human beings. This data is now static.
Databases from the Human Genome Variation Society (HGVS)
General access page to NCBI's variation resources.
Genetic Testing Registry
Online Mendelian Inheritance In Man® (OMIM®)
HGVS: Recommendations for the description of DNA sequence variants - v2.0
The Human Genome Variation Society (HGVS) provides a standardized nomenclature for referring to genetic variations. It is used by the NCBI and many other organizations.
Software & Analysis Tools
NCBI Variation Viewer
View, search, and navigate variations in genomic context, including data from dbSNP, dbVar and ClinVar and user-uploaded data.
PheGenI: Phenotype-Genotype Integrator (NCBI)
Merges NHGRI genome-wide association study (GWAS) catalog data with several databases housed at the National Center for Biotechnology Information (NCBI), including Gene, dbGaP, OMIM, GTEx and dbSNP.
Variation Viewer (NCBI)
Visualize variations on sequence maps
DAVID - Database for Annotation, Visualization and Integrated Discovery
Multiple software tool sets for comprehensive gene annotation, expression data analysis, biological pathway mapping, and other functional genomics tasks.
Gene Expression >>
Jan 3, 2020 10:54 AM
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