title: The HuRef Browser: a web resource for individual human genomics.
abstract: The HuRef Genome Browser is a web application for the navigation and analysis of the previously published genome of a human individual, termed HuRef. The browser provides a comparative view between the NCBI human reference sequence and the HuRef assembly, and it enables the navigation of the HuRef genome in the context of HuRef, NCBI and Ensembl annotations. Single nucleotide polymorphisms, indels, inversions, structural and copy-number variations are shown in the context of existing functional annotations on either genome in the comparative view. Demonstrated here are some potential uses of the browser to enable a better understanding of individual human genetic variation. The browser provides full access to the underlying reads with sequence and quality information, the genome assembly and the evidence supporting the identification of DNA polymorphisms. The HuRef Browser is a unique and versatile tool for browsing genome assemblies and studying individual human sequence variation in a diploid context. The browser is available online at http://huref.jcvi.org.
authors.affiliation: J. Craig Venter Institute, 9704 Medical Center Drive, Rockville, MD 20850, USA. naxelrod@jcvi.org
authors.forename: Nelson
authors.initials: N
authors.lastname: Axelrod
authors.forename: Yuan
authors.initials: Y
authors.lastname: Lin
authors.forename: Pauline C
authors.initials: PC
authors.lastname: Ng
authors.forename: Timothy B
authors.initials: TB
authors.lastname: Stockwell
authors.forename: Jonathan
authors.initials: J
authors.lastname: Crabtree
authors.forename: Jiaqi
authors.initials: J
authors.lastname: Huang
authors.forename: Ewen
authors.initials: E
authors.lastname: Kirkness
authors.forename: Robert L
authors.initials: RL
authors.lastname: Strausberg
authors.forename: Marvin E
authors.initials: ME
authors.lastname: Frazier
authors.forename: J Craig
authors.initials: JC
authors.lastname: Venter
authors.forename: Saul
authors.initials: S
authors.lastname: Kravitz
authors.forename: Samuel
authors.initials: S
authors.lastname: Levy
mesh_terms: D030561:Databases, Nucleic Acid; D014644:Genetic Variation; D015894:Genome, Human; D023281:Genomics; D006801:Humans; D020407:Internet; D012984:Software