Exome Sequencing and Variant Analysis Pipeline

Exome sequences were enriched from DNA using the SureSelect Exome Enrichment kit V4 (Agilent Technologies). Sequencing was performed on a 5500xl SOLiD System (Life Technologies), producing 75-bp single-end reads. For subsequent bioinformatics analysis, an in-house pipeline based on GATK best practice was used (65 (link)). Alignments were generated by the proprietary Lifescope software (66 (link)). Variant files were annotated using the variant effect predictor software (67 (link)) and processed using GEMINI (68 (link)), with filter parameters set for allele frequencies of ≤1% in the 1000 Genomes Project, an impact severity classification of medium or high, and a recessive inheritance pattern.