In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.

Allison J Cox; Fillan Grady; Gabriel Velez; Vinit B Mahajan; Polly J Ferguson; Andrew Kitchen; Benjamin W Darbro; Alexander G Bassuk

a Phen=phenotype, b Anc=ancestry, c AF=allele frequency, d y/n corresponds to yes/no counts of individuals with qualifying mutations *bp (base pair position) in hg19/Build37 Ancestries: EU=European, E Asia = East Asia, C/S Asia = Central/South Asia, ME = Middle East p-values in bold are the most significant for the specific analysis EU(y/n)d: All(y/n) Ancestries: EU=European, C/S Asia = Central/South Asia; Phenotypes: IS = Infantile spasms, LGS = Lennox-Gastaut syndrome a z-score is a measure of tolerance to missense variants, based on ratio of expected to identified; b pLI is the probability that a gene is intolerant to loss-of-function variants; c Polyphen2 -prediction of a missense mutation's impact on protein structure and function: B=benign, P=possibly damaging, D=damaging (Adzhubei et al., 2010); d CADD = phred-scaled score of Combined Annotation Dependent Depletion, a measure of the deleteriousness of a SNP or INDEL (Kircher et al., 2014) . author/funder. All rights reserved. No reuse allowed without permission.