Transcript PPT - Bioinformatica UPF

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The UCSC Genome Browser
Introduction
Materials prepared by
Mary Mangan, Ph.D.
www.openhelix.com
Updated: Q4 2010
Version18a_1110
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reproduction without express written
consent
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UCSC Genome Browser Agenda
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Introduction and Credits
Basic Searches
Understanding Displays
Get Details or Sequences
Sequence Searches (BLAT)
Summary
Exercises
UCSC Genome Browser: http://genome.ucsc.edu
Copyright OpenHelix. No use or reproduction without express written consent
4
Organization of Genomic Data
Annotation Tracks
sequence Genome backbone: base position number
chromosome band
sts sites
gap locations
known genes
predicted genes
Links out to
more data
enhancer/promoter data
microarray/expression data
evolutionary conservation
SNPs
repeated regions
more…
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5
A Sample of the UCSC Genome Browser
gene details
reference
sequence
Annotation Tracks
comparisons
SNPs
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UCSC Genome Browser Credits
Development team: http://genome.ucsc.edu/staff.html
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Led by David Haussler and Jim Kent
Dozens of staff and students bring you this software and data
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http://genome.ucsc.edu/goldenPath/credits.html
Funding, data sources, external contributors
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UCSC Genome Browser Agenda







Introduction and Credits
Basic Searches
Understanding Displays
Get Details or Sequences
Sequence Searches (BLAT)
Summary
Exercises
UCSC Genome Browser: http://genome.ucsc.edu
Copyright OpenHelix. No use or reproduction without express written consent
8
The UCSC Homepage: http://genome.ucsc.edu
navigate
navigate
General information
Specific information—
new features, current status, etc.
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9
Genome Browser Gateway: start page, basic search
text/ID
searches
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Use this Gateway to search by:
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Gene names, symbols, IDs
Chromosome number: chr7, or region: chr11:1038475-1075482
Keywords: kinase, receptor
See lower part of page for help with format
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The Genome Browser Gateway
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assembly
Make your Gateway choices:
1.
Select Clade + genome = species: search 1 species at a time
2.
Assembly: the official backbone DNA sequence
3.
Position: location in the genome to examine, or gene
4.
Image width: how many pixels in display window; 5000 max
5.
Track search to find data types of interest
6.
Configure: make fonts bigger + other choices
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The Genome Browser Gateway
sample search for Human TP53
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Sample search: human, March 2006 assembly, tp53
select
uc002gij.2
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Select from results list
ID search may go right to a viewer page, if unique
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Copyright OpenHelix. No use or reproduction without express written consent
12
UCSC Genome Browser Agenda







Introduction and Credits
Basic Searches
Understanding Displays
Get Details or Sequences
Sequence Searches (BLAT)
Summary
Exercises
UCSC Genome Browser: http://genome.ucsc.edu
Copyright OpenHelix. No use or reproduction without express written consent
13
}
Overview of the Whole
Genome Browser Page
Genome viewer section
(mature release)
Groups of data (Tracks)
Mapping and Sequencing Tracks
Phenotype and Disease Tracks
Genes and Gene Prediction Tracks
(including sno/miRNA data)
mRNA and EST Tracks
Expression (such as microarray)
Regulation (including TFBS)
Comparative Genomics
•As a group
•Individual species
Default settings;
tracks can now be
dragged in viewer
Variation and Repeats
(including SNPs, copy number variation)
ENCODE Tracks
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Different Species, Different Tracks, Same Software
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Species may have different data tracks
Layout, software, functions the same
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Sample Genome Viewer Image, TP53 Region
scale
base position
UCSC genes
RefSeq genes
mRNAs & ESTs
ENCODE
44 species compared
single species compared
SNPs
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repeats
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Visual Cues on the Genome Browser
Tick marks; a single location (STS, SNP)
3' UTR
exon
<<<
exon
< exon < < < <ex 5' UTR
Intron and direction of transcription <<< or >>>
Track colors may have meaning—for example, UCSC Gene track:
•If there is a corresponding PDB entry = black
•If there is a corresponding reviewed/validated seq = dark blue
•If there is a non-RefSeq seq = lightest blue
Mammal
cons.
height of a blue bar is increased likelihood of conservation,
red indicates a likelihood of fast evolving regions
Alignment indications (Conservation pairs: “chain” or “net” style)
•Alignments = boxes, Gaps = lines
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Options for Changing Images: Upper Section
walk
zoom
Click to
zoom 3x + center
Tweak position or
do new search
Hold/drag mouse
to view section
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Change your view or location with controls at the top
Use “base” to get right down to the nucleotides
Drag tracks up and down the viewer to re-arrange
Various select and focus options by clicking/dragging mouse
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Annotation Track Display Options
Enforce
enforce
changes
Links to info
and/or filters
Change
track view
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Some data is ON or OFF by default
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Menu links to info about the tracks: content, methods
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You change the view with pulldown menus
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After making changes, REFRESH to enforce the change
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Basic Annotation Track Menus Defined
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Hide: removes a track from view
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Dense: all items collapsed into a single line
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Squish: each item = separate line, but 50% height + packed
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Pack: each item separate, but efficiently stacked (full height)
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Full: each item on separate line
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Tracks with Additional Options: Filters, more….
off
on
Supertrack
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Some tracks have filters (ESTs shown; SNPs other good example)
Some tracks may have undisplayed data (Yale TFBS)
Super-tracks may have multiple components, various settings
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Mid-page Options to Change Settings
Search for
data types
Flip display to
Genomic 3’5’
Resets, back
to defaults
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Enforce any changes
(hide, full, squish…)
Start from
scratch
Search for data types
You control the views with
numerous features
Configure options page
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22
Cookies and Sessions
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Your browser remembers where you were (cookies)
OR
To clear your “cart” or parameters, click default tracks or reset
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Save your setup as “Session” and store/share them
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UCSC Genome Browser Agenda







Introduction and Credits
Basic Searches
Understanding Displays
Get Details or Sequences
Sequence Searches (BLAT)
Summary
Exercises
UCSC Genome Browser: http://genome.ucsc.edu
Copyright OpenHelix. No use or reproduction without express written consent
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Click Any Viewer Object for Details
Click the item
New description
web page opens
Many details
and links
to more data
about TP53
Example: click your mouse anywhere on the TP53 line
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informative
description
other resource links
links to sequences
Click Annotation Track Item
for Details Pages
genetic association
studies
comparative toxicology
microarray data
Not all genes have
this much detail.
Different
annotation tracks
carry different data.
mRNA secondary structure
protein domains/structure
orthologs in other species
Gene Ontology™ descriptions
mRNA descriptions
pathways
gene model
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Get DNA, with Extended Case/Color Options
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Use the DNA link at
the top
Plain or Extended
options
Change colors,
fonts, etc.
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Get Sequence from Details Pages
Click a track, go to Sequence section of details page
Click the item
sequence section
on detail page
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28
UCSC Genome Browser Agenda







Introduction and Credits
Basic Searches
Understanding Displays
Get Details or Sequences
Sequence Searches (BLAT)
Summary
Exercises
UCSC Genome Browser: http://genome.ucsc.edu
Copyright OpenHelix. No use or reproduction without express written consent
29
Accessing the BLAT Tool
BLAT = BLAST-like Alignment Tool
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Rapid searches by INDEXING the entire genome
Works best with high similarity matches
See documentation and publication for details
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Kent, WJ. Genome Res. 2002. 12:656
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BLAT Tool Overview:
www.openhelix.com/sampleseqs.html
Make
choices
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Paste one or
more sequences
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DNA limit 25000 bases
Protein limit 10000 aa
25 total sequences
submit
Or
upload
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sorting
Results with demo sequences, settings default; sort = Query, Score
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go to alignment detail
go to browser/viewer
BLAT Results with Hyperlinks
Score is a count of matches—higher number, better match
Click browser to go to Genome Browser image location (next slide)
Click details to see the alignment to genomic sequence (2nd slide)
Copyright OpenHelix. No use or reproduction without express written consent
32
BLAT Results: Browser
query
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From browser click in BLAT results
A new line with Your Sequence from BLAT Search appears!
Base position = “full” menu and zoomed in enough to see
amino acids in 3 frame translation
Copyright OpenHelix. No use or reproduction without express written consent
33
BLAT Results,
Alignment Details
Your query
Genomic match, color cues
Side by Side Alignment
yours
genomic
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34
UCSC Genome Browser Agenda







Introduction and Credits
Basic Searches
Understanding Displays
Get Details or Sequences
Sequence Searches (BLAT)
Summary
Exercises
UCSC Genome Browser: http://genome.ucsc.edu
Copyright OpenHelix. No use or reproduction without express written consent
35
Introduction Summary
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UCSC Genome Browser
Visual cues and genomic context
Many ways to alter your views
Access to deeper data
Access and use sequence data
Copyright OpenHelix. No use or reproduction without express written consent
36
UCSC Genome Browser Agenda







Introduction and Credits
Basic Searches
Understanding Displays
Get Details or Sequences
Sequence Searches (BLAT)
Summary
Exercises
UCSC Genome Browser: http://genome.ucsc.edu
Copyright OpenHelix. No use or reproduction without express written consent
37
Hands-on Session for Introduction
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Exercises provided as document
We will walk through them together
2 styles: questions only, and step-by-step
When we are finished the formal exercises, we can
help you to investigate issues that you want to
understand for your research
Copyright OpenHelix. No use or reproduction without express written consent
38
Notice:

The materials and slides offered are for non-commercial use
only. Reproduction, distribution and/or use for commercial
purposes is strictly prohibited.

Copyright 2010, OpenHelix, LLC
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http://www.openhelix.com/ucsc
Copyright OpenHelix. No use or reproduction without express written consent
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