| Submitter Method Handle: | EVA_EXAC | | Submitter Method ID: | EXAC_0.3 | | Submitted method description: | |
| | The current data release (0.3) was initially generated across a combined data set of 91,796 exomes, from which 60,706 were extracted for public release based on consent, consortium permission, exome data quality, and lack of relatedness with other samples | | | Exome sequencing data was processed through a pipeline based on Picard, using base quality score recalibration and local realignment at known insertion/deletions (indels). We used the BWA aligner for mapping reads to the human genome build 37 (hg19). Geno | | | GATK Variant Quality Score Recalibration (VQSR) was used to filter variants. To train the SNP VQSR model HapMap3.3 and 1KG Omni2.5 SNP sites were used and a 99.6% sensitivity threshold was used to filter variants, while Mills et. al. 1KG gold standard and |
This method was used in the following submission:
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