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RM Characterization
• Measurements for NA12878
– Illumina, CGI, ABI
– Moleculo & CGI LFR technologies
– ~20-30x Pac Bio data will be available soon (w/Robert Sebra)
– Optical mapping (BioNanoGenomics) possibly
– 454 for follow up of interesting regions & some conflict resolution where
applicable (possibly)
– Ion (if available )
• Measurements for the PGP trios?
– Illumina, CGI, ABI & PacBio (depth to be determined)
– Moleculo & CGI LFR
– Targeted follow up interesting regions (454?)
– Ion (if available)
• Phasing
– Use PacBio, Moleculo & CGI LFR as internal QC for the trio data as well as
coflict resolution for NA12878

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Aug2013 reference material characterization working group

  • 1. RM Characterization • Measurements for NA12878 – Illumina, CGI, ABI – Moleculo & CGI LFR technologies – ~20-30x Pac Bio data will be available soon (w/Robert Sebra) – Optical mapping (BioNanoGenomics) possibly – 454 for follow up of interesting regions & some conflict resolution where applicable (possibly) – Ion (if available ) • Measurements for the PGP trios? – Illumina, CGI, ABI & PacBio (depth to be determined) – Moleculo & CGI LFR – Targeted follow up interesting regions (454?) – Ion (if available) • Phasing – Use PacBio, Moleculo & CGI LFR as internal QC for the trio data as well as coflict resolution for NA12878