The exon targetted run is part of the pilot study which targetted 1000 genes in nearly 700 individuals using a custom array. The targets for this pilot can be found in the pilot_data/technical/reference directory.
The exome sequencing the 1000 Genomes project has undertaken is targetting the entirety of the CCDS gene set.
The targets used for the phase 1 data release of 1092 samples can be found in technical/reference/exome_pull_down_targets_phases1_and_2; the targets for phase 3 analysis can be found in technical/reference/exome_pull_down_targets/.
The phase 1 and 2 targets are intersections of the different technologies used and the CCDS gene list. For phase 3 we are using a union of two different pull-down lists: NimbleGen EZ_exome v1 and Agilent sure select v2
In phase 3 very little exome specific calling took place. Instead analysis groups called variants tending to use the low coverage and exome data together in an integrated manner.
The 1000 Genomes Project has run two different pull-down experiments. These are labelled as “exon targetted” and “exome”.
An exon targetted run is part of the pilot study which targetted 1000 genes in nearly 700 individuals. The targets for this pilot can be found in the pilot_data/technical/reference directory.
An exome run is part of the whole exome sequencing project which targetted the entirety of the CCDS gene set. The targets used for the phase 1 data release of 1092 samples can be found in technical/reference/exome_pull_down_targets_phases1_and_2; the targets for phase3 analysis can be found in technical/reference/exome_pull_down_targets/