Donna Maglott

Donna Maglott (Ph.D, 1970, University of Michigan) has worked in the area of bioinformatics since 1986. She started at NCBI in 1998, where she developed multiple databases including those supporting reference sequences (RefSeq), Gene, STS markers, Conserved CoDing Sequences (CCDS), Map Viewer, RefSeqGene, the NIH Genetic Testing Registry (GTR), MedGen, and ClinVar. This work has involved extensive interactions with multiple groups, including OMIM®, nomenclature committees, GeneReviews^TM, UniProtKB, and model organism databases. She played a lead role in developing the functions to track and identify genes for NCBI’s annotation group.In recent years, she has become more involved with representation of rare variation and relationships to human health. She had a lead in introducing use of the HGVS standard to dbSNP’s submission processing and to displays of variation in multiple NCBI tools. She has encouraged submission from locus-specific databases to central databases, and her staff has mentored processing of variation data in GeneReviews^TM and OMIM® into ClinVar, dbSNP, and dbVar. She has also contributed to the development of PheGenI, a resource associating common variation to human phenotype. She currently focuses on projects supporting Medical Genetics at NCBI, namely RefSeqGene/LRG (https://www.ncbi.nlm.nih.gov/refseq/rsg), MedGen (https://www.ncbi.nlm.nih.gov/medgen/) and ClinVar (https://ncbi.nlm.nih.gov/clinvar/), while continuing to work with multiple groups to improve the representation of human disorders, and the genes and variations with which they are related.