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GIAB Mee(ng
Elizabeth Hénaff Chris Mason
NIST
Aug 26th, 2015
Casacuberta and Santiago 2003
JITTERBUG Hénaff et al 2015 – BMC Genomics (in press)
insertion site
properly mapped core reads support heterozygous insertion
discordant read pairspredict a TE insertion
softclipped reads predict exact breakpoint
anchor TE mate
predicted insertion interval
anchorTE mate
fwd cluster
rev cluster
ref support
supporting fwd reads
supporting rev reads
length
span
softclipped support
83% of variable loci respect possible inherited genotypes 17% are either FN or FP or mis-‐called allelic frequency 11 inser(ons are poten(ally novel to child
Future Perspec(ves -‐ Run on full coverage trios (so far ran on 90X bams) -‐ Use similar approach to T/N to call FN in related datasets
-‐ Further study inheritance pa\erns (by chromosome)
THANKS!! CRG: Stephan Ossowski + lab Josep Casacuberta Weill Cornell: Chris Mason + lab