Article
Bridging heterogeneous mutation data to enhance disease gene discovery.
Briefings in bioinformatics - 2 Sept 2021
Zhou Kaiyin, Wang Yuxing, Bretonnel Cohen Kevin, Kim Jin-Dong, Ma Xiaohang, Shen Zhixue, Meng Xiangyu, Xia Jingbo
Abstract excerpt
Bridging heterogeneous mutation data fills in the gap between various data categories and propels discovery of disease-related genes. It is known that genome-wide association study (GWAS) infers significant mutation associations that link genotype and phenotype. However, due to the differences of size and quality between GWAS studies, not all de facto vital variations are able to pass the multiple testing. In the...
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