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  • Exome Variant Annotation, Filtering, and Single-Variant Genotyping: Exome variants were annotated using ClinVar (http://www.ncbi.nlm.nih.gov/clinvar) and Seattle Seq 137 (http://snp.gs.washington.edu/SeattleSeqAnnotation137/HelpHowToUse.jsp), Variant Effect Predictor, Release 76 [81, 82], and searched with GEMINI [83].
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