Two new human data tracks: PanelApp and HGNC
Daniel Schmelter
Hello Genomics Community,
The UCSC Genome Browser team is happy to announce two new fantastic data tracks on the human reference genomes, hg19 and hg38. We hope these additions will improve disease diagnostic capacity and harmonize different gene naming systems.
The PanelApp track is a Phenotype and Literature track from Genomics England which shows expert, crowdsourced diagnostic disease panels among genes, copy-number variants (CNV), and short tandem repeats (STR). This collection of nearly 50,000 associations includes a confidence level color score, detailed mouseover, inheritance patterns, and links to the primary data source. We are proud to say that this evolving resource will be kept up-to-date with automatic weekly data updates. This is a much-requested data track and we hope it sees some attention!
The HGNC track is a Genes track from the Hugo Gene Nomenclature Committee, the official source for gene names. This searchable track is a unifier of different identifiers for the same gene, with up to 24 aliases linked together under one annotation. Clicking into an entry will show data on current names, former names, and full names; you name it! Actually don't name it, because it's already been named. Adding this thesaurus archive will help researchers to better search and find the gene they're looking for, regardless of source and age.
Try PanelApp and HGNC yourself here
https://genome.ucsc.edu/s/view/PanelApp_HGNC
Wishing everyone well,