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

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

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

The data was annotated using annovar [16] (Version August 2013). Functional prediction was performed with snpEFF [17] (build 2014-01-16) and AVSIFT (Annovar).

ISSN: 1471-2261