Human genome database unveiled

A broad-ranging international collaboration reports today (April 20) in PLoS Biology the validation of more than 21,000 human gene candidates, including more than 5100 new genes and nearly 300 noncoding RNA genes. The researchers also identified hundreds of polymorphic microsatellite repeats and many thousands of single nucleotide polymorphisms that could alter proteins and cause disease.

The Japan-based collaboration also reveals a novel tool for making sense of the human genome. The H-Invitational Database (H-InvDB), based on more than 41,000 full-length cDNAs, comprises the most elaborate annotation of human genes to date. It includes descriptions of gene structures, novel alternative splicing isoforms, functional domains, subcellular localizations, metabolic pathways, and comparisons with mouse cDNA. The database is free and open to all.

“This is a pretty important contribution,” Sean Eddy, who heads the Howard Hughes Medical Institute genetics lab at Washington University in St. Louis, told The Scientist. Full-length cDNA sequences such ...