Skip to main content

Table 2 Bioinformatic filtering of the family members that were exome sequenced

From: Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia

Filter III.3 III.18 IV.7 Mean
Total aligned variants 38,702 38,408 38,775 38,628
Variants (exome) 20,344 20,387 20,173 20,301
Not in internal controls 1,995 2,123 2,097 2,072
Variants with frequency <0.1% in 1000G and ESP 1,643 1,885 1,864 1,797
Conserved and no segmental duplication 713 900 862 825
snpEFF = HIGH and AVSIFT <0.05 7 18 19 15
Shared variants     1
  1. The data was annotated using annovar [16] (Version August 2013). Functional prediction was performed with snpEFF [17] (build 2014-01-16) and AVSIFT (Annovar).