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Mason u41 grant figures
 

Mason u41 grant figures

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    Mason u41 grant figures Mason u41 grant figures Presentation Transcript

    • Genotype  Error  Biological  Heterogeneity  Informa5c  Noise  Chemical/Op5cal  Noise  InterpretationFailure!A  
    • B        C          D  
    • A                        B  5-­‐10%  -­‐  Non-­‐reproducible  Regions  of  the  Genome   ~90-­‐95%  -­‐  Reproducible  Regions  of  the
    • Complete !Genomics!Overlap! 1000 Genomes!15,309,617! 13,029,568!12,357,915!A                                  B  C                                D  E    Region%(of(genomeGold 95.07%Silver 2.95%Bronze 0.02%Lead 1.96%50x 100x 200xGold 100% 100% 100%Silver 85% 90% 94%Bronze 54% 68% 82%Lead 519 6,589 22,164WGS5Concordance0%#1%#2%#3%#Silver# Bronze# Lead#%"of"Medically"Relevant"SNVs"N=32  WGS  of  replicate  DNA  @  30X  coverage  (Rosenfeld,  Mason,  Smith,  2012)  
    • A)   B)   C)  D)   E)   F)  G)   H)   I)  
    • RM  Tracking  &  Dissemina5on    • RM  Maintenance  (Salit)  • RM  distribu5on  (Zook)  • RM  Tracking  (Mason)  RM  Tes5ng  and  Sequencing  Sites      • Cornell  (Mason,  Grills)  • MSSM(Schadt,  Sebra)  • ABRF  (Grills,  NARG)  • Vendors  (ILM,  CG,  PAC,  LIF,  BIO)  Informa5cs  and    Genome  Analysis    • GCAT  (Mi_elm• Arvados  (Zara• Gmake  (Maso
    • A                              B                                          C  
    • CAG repeat CGG
    • 74.74%  0.55%  19.01%  5.60%  0.10%  Popula5on  gene5cs  Protein  structure  Sequence  analysis  Other  Sequence  alignment  0  20  40  60  80  100  120  140  160  2005  2006  2007  2008  2009  2010  2011  2012  Number  of  users  Year  A                    B  
    • A                B  
    • A                        B                C  D                  E                    F