Marked yield of re ‐evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities

This study confirmed the utility of exome sequencing in the diagnosis of ID/DD. Furthermore, re‐evaluation leads to a 15% improvement in diagnostic yield. Thus, to maximize the diagnostic yield of next‐generation sequencing (NGS), periodical re‐evaluation of the geno/phenotypic data of undiagnosed individuals is recommended by updating the OMIM annotation, applying new algorithms, reviewing the literature, sharing pheno/genotypic data, and re‐contacting patients.

Source: American Journal of Medical Genetics Part A - November 21, 2017 Category: Genetics & Stem Cells Authors: Bing Xiao, Wenjuan Qiu, Xing Ji, Xiaoqing Liu, Zhuo Huang, Huili Liu, Yanjie Fan, Yan Xu, Yu Liu, Hui Yie, Wei Wei, Hui Yan, Zhuwen Gong, Lixiao Shen, Yu Sun Tags: ORIGINAL ARTICLE Source Type: research