UCSC Genome Browser


clinvar

Student Project done by:

  • Chui Pui Man, Pui
  • Lee Kam Yan, Kam
  • Wong Yin Chung, Alex
  • Yu Man Yee, Mandy

Their slides can be downloaded here

UCSC Genome Browser is a web-based tool that provides a fast, easy way to display a specific region of a genome assembly, along with dozens of aligned annotation tracks.

The browser features data from a large collection of vertebrates, model organisms, and selected invertebrate genomes.

  • Rapid and reliable display of any requested portion of genomes.
  • Dozens of aligned annotation tracks show together.
  • Tracks can be hidden, collapsed into a condensed or full display according to the user’s criteria.
  • Rapid visual correlation of different types of information.
  • Zooming and rolling controls help to narrow or broaden the displayed chromosomal range to focus on the exact region of interest.
  • Half of the annotation tracks are computed at UCSC from publicly available sequence data.
  • The remaining tracks are provided by worldwide.
  • Users can add their own custom tracks to the browser for educational or research purposes.

clinvar Official Website

Genome Assembly

Genome: entire genetic materials contain in an individual cell of organism

Human genome: diploid genome, 46 chromosomes, also genetic materials in mitochondria

Genome assembly: set of chromosomes, unlocalized scaffolds, unplaced scaffolds, alternate sequences that represent an organism’s genome

Gap

To measure length of genome: count no. of base pair

Normally, redundant regions will be deleted with assist of layering sequencing information over a physical map to combine scaffold information. However, this make gaps, appear and making sequence longer than typical base pair assembly. Redundant regions: haplotypes & pseudoautosomal regions


Tools and case study could be found here or the student project.

Top


Related