ucsc genome browser - amazon s3€¦ · robert kuhn uc santa cruz. variant prediction workshop....
TRANSCRIPT
.Robert Kuhn
UC Santa Cruz.
Variant Prediction Workshop.
Heraklion, Greece
November 2, 201611:45 am
UCSC Genome Browser
@GenomeBrowser
Genomes
hg38 altsSessions, incl. Public Sessions
Custom Tracks
BAM
VCF
Multi-region
Exon-only
hg38 alt regions
Upload list of genes
http:// genome-euro.ucsc.edu
http:// bit.ly/vep2016
>>>>>
Genome Browser:A tool for inquiry-driven discovery
Data pipeline
slide modified from:
Tim Hubbard, King’s College, London
100K genomes (rare disease or cancer)
Variant Annotation Integrator
BAM track
Wiggle track
BAM track
bamToBedGraphbedGraphToBigWig
bedGraph track
Data pipeline
YouTube training channel: bit.ly/ucscVideos
On-site workshops (training link on main page):http:// genome-euro.ucsc.edu/training
Overcoming large-file upload limits
Remote, binary, indexed filetypes
file
to UCSC
Typical Custom Track:File is uploaded to our server
(large)
bigBed, bigwig, BAM or VCF Custom Track: File lives on your server, but is indexed. Only local display information is uploaded
fileto UCSC
(small)
file
ftp, http, https
to UCSC
URL Custom Track:File lives on your server, but is fully uploaded when invoked
(large)
ftp, http, httpsindexed
VariationWatson: 2.06 million SNPsVenter: 3.32 million SNPs
1.19 million in common
In 20 kb myoglobin region on chr22, Watson and Venter share 20 SNPs. Watson has 9 unique SNPs, Venter 6.
VariationWatson: 2.06 million SNPsVenter: 3.32 million SNPs
1.19 million in common
VariationWatson: 2.06 million SNPsVenter: 3.32 million SNPs
all human SNPs
VariationWatson: 2.06 million SNPsVenter: 3.32 million SNPs
one chimp
Exon-only
RNA-seq data from CSHL, ENCODE project
user: example
session: hg19_exonsExpression3
Defined regions
Start with genes: FGF1, FGFR{1,2,3,4}
Get their coords
Load into URL; display
Alternate haplotypes
Map ends of alt with BLAT
Swap alt into place
Live demo:
http:// genome.ucsc.edu