Useful Links/Resources

Useful Links/Resources


Resource Description URL
OMIM – Online Mendelian Inheritance in Man Comprehensive database of human genes and genetic disorders https://www.omim.org/ 
HGNC – HUGO Gene Nomenclature Committee Official repository for human gene names and symbols https://www.genenames.org/ 
Ensembl Genome Browser Official repository for human gene names and symbols https://www.genenames.org/ 
UCSC Genome Browser Genomic sequence data and annotations for multiple species https://genome.ucsc.edu 
ClinVar Public archive of interpretations of clinical significance of gene variants https://www.ncbi.nlm.nih.gov/clinvar 
DECIPHER Database of genomic variation and associated clinical phenotypes https://www.deciphergenomics.org/ 
dbSNP – Single Nucleotide Polymorphism Database Repository of short genetic variation data (SNPs and others) https://www.ncbi.nlm.nih.gov/snp 
ISCN – International System for Human Cytogenomic Nomenclature Standard for chromosome and cytogenetic nomenclature https://iscn.karger.com 
MedlinePlus Genetics (formerly Genetics Home Reference) Trusted, accessible gene and condition information https://medlineplus.gov/genetics 
Human Genome Project Information  Data and insights from the Human Genome Project https://www.genome.gov/human-genome-project