PowerPoint Presentation
Epigenetics QC (EpiQC) for Earth and Space(FDAs SEQC2 / ABRF /
NIST GIAB)
Christopher E. MasonAssociate ProfessorDepartment of Physiology
and Biophysics &The Institute for Computational Biomedicine at
theWeill Cornell Medicine and theTri-Institutional Program on
Computational Biology and MedicineSeptember 15th, 2016_6
@mason_lab
Epigenome
Epitranscriptome
Epiproteome (PTM)
DNARNAProteintranscriptiontranslation
RT
ACGT
viRNA
I N H E R I T A N C E or T R A N S M I S S I O
NprionsiDNAmC,hmC, 8oxoG, m6A
(sn/sno/g)RNA(t/r/tm)RNA
(lnc/nc/mi/piwi/si/vi)RNAscRNARbPRibozymes
PrionsiRNAiProteinmC,hmC, 8oxoG, m6A, m6A, 5G,polyA, Acet, Phos,
Citr, SUMO, from Saletore et al., Genome Biology, 2012
2Guide RNAs meditate RNA editing in mitochondria and serve as
template correction, transfer-messenger RNAs in bacteria, small
cytoplasmic RNA
Epigenetics data sets for EpiQC
Co-Chairs: Youping Deng, Sheng Li, and Christopher
MasonCompleted for HG-002/3/4WBGS 30X WGBS data (Mason &
NYGC)Illumina 450K methylation array data (Deng)Agilent 244K
(G4492A ) methylation array (Deng)Roche CpGiant capture data vs.
Agilent SureSelect vs. ERRBS (Mason, HG001)PacBio RSII (60X HG002,
30X for HG003/4 from NIST)
Pending for HG-002/3/4/otherIllumina EPIC 850K chip
(Deng)Oxidative-bisulfite sequencing (Ox-BS) for the GIAB samples
(Li)Single-cell RRBS on the Fluidigm C1 (Mason)AbbVie ANDI study on
EPIC 850K methylation QC (1,900 samples)
Assays/Data for the EpiQC in the SEQC2/GIABSamplem6Am4Cm5Chm5C
RSIIMinION450/850K Methyl ArrayoxBSWGBSRRBSEarth
/SpaceHG001+-+++++/+++++/-HG002+-+++++/+++++/-HG003+-+++++/+++++/-HG004+-+++++/+++++/-IMR90+-++--+/+-+++/-DNMT3A/1
KO+-++--+/+-+++/-Mouse (BALB/)C+-++++NA++++/+E. coli
(K-12)+++-++NA++-+/+Lambda - l++--++NA-+-+/+
Base modificationPlatform / Assay / Location
Why?
DNA methylation defines cellular phenotypes and lineage
specification, and much of the action is beyond CpG
islandsFernandez et al, Genome Research, 2012
Unsupervised hierarchical clustering and heatmap including CpG
dinucleotideswith differential DNA methylation encountered between
different normal primary samples. Tissue type and development
layers are displayed in thedifferent colors indicated in the figure
legends. Average methylation values are displayed from 0 (green) to
1 (red). (B) Deviation plot for the 1322 CpGsites studied in
leukocyte samples showing that little CpG methylation heterogeneity
(yellow area) occurs overall at CpG sites within CpG islands (red
linesin the track below), while more differences in CpG methylation
are observed outside CpG islands (blue lines in the track below).
(C ) Unsupervisedhierarchical clustering and heatmap including sets
of genes with high correlation values between hypomethylation (up)
and hypermethylation (down)with aging. (D) Unsupervised
hierarchical clustering and heatmap showing the DNA methylation
patterns of embryonic and adult stem cells, comparingthem with
corresponding normal and differentiated tissues (muscle, bone, and
neuron; and muscle and brain, respectively).6
Steve Horvath, DNA methylation age of human tissues and cell
types, Genome Biology, 2013.Age of methylation increases in all
tissues as time passes; is accelerated in cancer
Horvath S. DNA methylation age of human tissues and cell types.
Genome Biology. 2013;14(10):R115.Horvath S. Genome Biology.
2013.
Weidner CI et al., Aging of blood can be tracked by DNA
methylation changes at just three CpG sites. Genome Biol. 2014 Feb
3;15(2):R24.DNA Marks can predict your age with few CpGs
http://www.yoloids.com/
Covert high school and college drinking WILL get harder
Li S, Garrett-Bakelman F, et al., 2016, Nature Medicine.
Can we sequence DNA in
space?http://www.nasa.gov/mission_pages/station/research/experiments/2181.html
Hardest Pipetting Job everDr. Andrew Feinberg
Open-source Shazam (UNFOG)song of genomes algorithm
onlinehttp://biorxiv.org/content/early/2015/12/10/032342.abstract,
in press at Nature Microgravity
SpaceX CRS-9: perfect launch and booster returnJuly 18, 2016
Flight data shows very good accuracy (89-92%) for 2D reads
Plus, good read accuracy (76-79%) for 1D readsfor the
template/complement measures.
Flight Data Read Accuracy
(% of reads)
https://spacegenetics.hms.harvard.edu/
https://www.nasa.gov/content/nasas-journey-to-mars12ETA:
2035
Next GIAB Project: Genome on a Planet (GIAP) to test
Interplanetary Reproducibility
Thanks Alexa McIntyre (WCM)Sheng Li (Jackson)Noah Alexander
(WCM)Yuta Suzuki and Shinichi Morishita (University of Tokyo)J.
Wade Davis (AbbVie)Youping Deng (Rush)Charles Wang (LLU)Weida Tong
(FDA)Leming Shi (Fudan)Wenming Xiao (FDA)Joshua Xu (FDA)Baitang
Ning (FDA)
Thanks to Funding from:
@mason_lab
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Deep Gratitude to Many People:IlluminaGary SchrothMarc Van
OeneUniv. ChicagoYoav GiladFDA/SEQC/Fudan Univ.Leming
ShiNIH/NCBIJean & Danielle Thierry-MiegBaylorJeff
RogersMSKCCDanwei HuangfuChristina LeslieRoss LevineAlex
Kentsis
HudsonAlphaBraden BooneShawn LevyMason LabEbrahim
AfshinnekooSofia AhsanuddinNoah AlexanderPradeep AmbroseDaniela
BezdanMarjan BozinoskiDhruva ChandramohanChou ChouTim
DonahoeFrancine Garrett-BakelmanJonathan FooxElizabeth Hnaff Alexa
McIntyreCem MeydenNiamh OHaraReika OshimaRachid OunitLenore
PipesJake ReedDarryl ReevesHeba ShabaanPriyanka VijayDavid
WestfallCornell/WCMScott BlanchardSelina Chen-KiangOlivier
ElementoSamie JaffreyAri MelnickMargaret RossEpigenomics Core
Horner LabStacy HornerIcahn/MSSMEric Schadt, Andrew
Kasarskis,Joel Dudley, Ali Bashir, Bobby SebraABRFGeorge
GrillsScott TigheDon BaldwinMiamiMaria E FigueroaAMNHGeorge
AmatoMark Sidall@mason_lab
NYUMartin BlaserJane CarltonJulia Maritz
MIT Media LabKevin SlavinDevora NajjarRegina
FloresRockefellerJeanne GarbarinoCharles RiceNASAAaron BurtonSarah
Castro-WallaceKate RubinsGraham ScottCraig KundrotJackson LabsSheng
Li
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