Chi-Yi Tsai, Yu-Cheng Lai
Design and Validation of an Augmented Reality Teaching System for Primary Logic Programming Education
Sensors (Basel, Switzerland)
rare coding variants significantly impact function provide insights biology gene13 however ascertaining frequency requires large sample sizes48 present catalogue human proteincoding variation derived exome sequencing 983578 individuals across diverse populations 23 regeneron genetics center million exome data rgcme comes noneuropean individuals african east asian indigenous american middle eastern south asian ancestry catalogue includes 104 million missense 11 million predicted lossoffunction plof variants identify individuals rare biallelic plof variants 4848 genes 1751 previously reported precise quantitative estimates selection heterozygous lossoffunction identify 3988 lossoffunction intolerant genes including 86 previously assessed tolerant 1153 lacking established disease annotation also define regions missense depletion high resolution notably 1482 genes regions depleted missense variants despite tolerant plof variants finally estimate 3 individuals clinically actionable genetic variant 11773 variants reported clinvar unknown significance likely deleterious cryptic splice sites facilitate variant interpretation geneticsinformed precision medicine make important resource coding variation rgcme accessible via public variant allele frequency browser