GENOMES ARE
THE LONG NOW
Mary Mangan, PhD
OpenHelix
February 6, 2017
@mem_somerville on twitter
ANSWERING AGE-OLD QUESTIONS
ALLOWING US TO ASK NEW ONES
ANCIENT SAMPLES CARRY IMPORTANT INFORMATION
THE NEVER-ENDING QUEST TO REWRITE THE TREE OF LIFE
www.rna-seqblog.com/
the-never-ending-quest-to-rewrite-the-tree-of-life
www.pbs.org/wgbh/nova/next/evolution/microbial-diversity
HOW WE ORGANIZE GENOME DATA TODAY
Copyright OpenHelix. No use
or reproduction without
express written consent
6
ORGANIZATION OF GENOMIC DATA
CONCEPTUAL LAYOUT OF A GENOME BROWSER PAGE
Reference genome: base position numbersequence
AnnotationTracks
chromosome band
predicted genes
phenotype and disease
evolutionary conservation
SNPs and structural variation
gap locations
known genes
repeated regions
microarray/expression data
more…
enhancer/promoter data
Links out to
more data
GENOME.UCSC.EDU
LIVE DEMO ATTEMPTED HERE (DEPENDS ON INTERNET CONNECTION)
GENOME.UCSC.EDU
DISCLOSURE: MY COMPANY HAS AN OUTREACH CONTRACT WITH UCSC GENOME BROWSER
TP53
TP53
Zoomed out
1.5x
FUTURE DIRECTIONS: PAN-GENOME DISPLAY
PERSONAL/PRECISION GENOMICS
& MISUSING GENOMICS
DE-EXTINCTION SCIENCE
Genomes are The Long Now (draft 1)

Genomes are The Long Now (draft 1)