This year we released three new tracks that describe human disease-associated genetic variation based on curated public data in the Leiden Open Variation Database (LOVD) (16), the Human Gene Mutation Database (HGMD) (17) and amino acid mutations in the UniProt database (18). We also added two annotation sets based on Phase 1 sequencing data from the 1000 Genomes Project (19). The integrated variant calls track, 1000G Ph1 Vars, shows single nucleotide variants (SNVs), indels and structural variants (SVs) that have been phased into independent haplotypes, which the Genome Browser clusters by local similarity for display. The paired-end accessible regions track, 1000G Ph1 Accsbl, shows which genome regions are more or less accessible to next-generation sequencing methods that use short, paired-end reads.
