Yong Zhang:
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The Human Genome Project has revolutionized the fields of biology and medicine, paving the way for subsequent large-scale projects in human population genomics. However, as sample sizes grow to more than ten thousand, bioinformatic methods and tools become inadequate to embrace new challenges and opportunities of big data. I have developed two novel bioinformatic tools, as well as participated in a study aimed at interpreting genomic variants within the Chinese population that addressed these challenges. Study 1 focused on addressing the computational challenge of joint variant calling in large -scale population samples.
Study 2 concentrated on the development of a new imputation method for low-pass sequencing that utilized graph genome technologies and the large reference panels generated from study 1. Study 3 emphasized the interpretation of the PTV patterns within a Chinese cohort of 19,937 individuals, which is underrepresented compared to Western populations.