Article
Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility.
PloS one - 1 Jan 2017
Kim Jihoon, Shimizu Chisato, Kingsmore Stephen F, Veeraraghavan Narayanan, Levy Eric, Ribeiro Dos Santos Andre M, Yang Hai, Flatley Jay, Hoang Long Truong, Hibberd Martin L, Tremoulet Adriana H, Harismendy Olivier, Ohno-Machado Lucila, Burns Jane C
Abstract excerpt
Kawasaki disease (KD) is the most common acquired pediatric heart disease. We analyzed Whole Genome Sequences (WGS) from a 6-member African American family in which KD affected two of four children. We sought rare, potentially causative genotypes by sequentially applying the following WGS filters: sequence quality scores, inheritance model (recessive homozygous and compound heterozygous), predicted...
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