genomes are the long now (draft 1)

GENOMES ARE THE LONG NOWMary Mangan, PhDOpenHelixFebruary 6, 2017

@mem_somerville on twitter

ANSWERING AGE-OLD QUESTIONSALLOWING 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-lifewww.pbs.org/wgbh/nova/next/evolution/microbial-diversity

HOW WE ORGANIZE GENOME DATA TODAY

Copyright OpenHelix. No use or reproduction without express written consent6

ORGANIZATION OF GENOMIC DATACONCEPTUAL LAYOUT OF A GENOME BROWSER PAGE

Reference genome: base position numbersequence

Ann

otat

ion

Trac

ks

chromosome band

predicted genesphenotype and disease

evolutionary conservationSNPs and structural variation

gap locationsknown genes

repeated regions

microarray/expression data

more…

enhancer/promoter data

Links out to more data

GENOME.UCSC.EDULIVE DEMO ATTEMPTED HERE (DEPENDS ON INTERNET CONNECTION)

GENOME.UCSC.EDUDISCLOSURE: 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