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

Aug2013 reference material characterization working group

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Page 1: Aug2013 reference material characterization working group

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