Useful resources for the interpretation of genetic tests and data

Hoopoe

Senior Member (Voting Rights)
Sequence Variant Nomenclature
This website clearly explains what codes like NG_012232.1(NM_004006.2):c.93+1G>T and p.Trp24Cys mean.

Ensembl
This website has good tools, such as a variant effect predictor. It's more for those with a (bio)informatics background.

ClinVar

A public archive of the relationships between gene variants and diseases, with supporting evidence.

OMIM
An online catalog of human genes and genetic disorders.
 
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