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New variation resources at the UCSC Genome Browser New variation resources at the UCSC Genome Browser

New variation resources at the UCSC Genome Browser - PowerPoint Presentation

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Uploaded On 2022-08-03

New variation resources at the UCSC Genome Browser - PPT Presentation

Brooke Rhead Angie S Hinrichs Timothy R Dreszer Brian J Raney Robert M Kuhn Ann S Zweig Donna Karolchik W James Kent Annotate your variants View gene alleles haplotypes from 1000 Genomes data ID: 933534

ucsc variants 0chr19 gene variants ucsc gene 0chr19 predicted genome browser effects haplotype track data highlighted alleles haplotypes

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Slide1

New variation resources at the UCSC Genome Browser

Brooke Rhead, Angie S.

Hinrichs

, Timothy R. Dreszer, Brian J. Raney, Robert M. Kuhn, Ann S. Zweig, Donna Karolchik, W. James Kent

Annotate your variants:

View gene alleles (haplotypes) from 1000 Genomes data:

Click on a gene in the UCSC Genes track:

See our wiki for more details:http://genomewiki.ucsc.edu/index.php/BoG2013VariationPoster

This work is funded by the National Human Genome Research Institute award U41HG002371 to the UCSC Center for Genomic Science.

Sequences

with

predicted effects. Variants are highlighted by vertical lines, and changes to the predicted amino acid sequence are highlighted in red. This gene (ABO) shows a

frameshift

mutation in several haplotypes.

Summary of variants in each haplotype allele.

Haplotype and

homozygosity

frequencies.

Scroll to the Gene Alleles section:

Upload variants:

track type=

pgSnp

visibility=pack

db=hg19 name=myVariants description="Unfiltered variants"browser position chr19:45403900-45422800chr19 45405965 45405966 C/A 2 0,0 0,0chr19 45406349 45406350 C/T 2 0,0 0,0chr19 45417439 45417440 A/G 2 0,0 0,0chr19 45419475 45419476 G/A 2 0,0 0,0

Download variants with predicted functional effects and annotations from UCSC Genome Browser data tracks: