Technical advances in massive parallel sequencing have resulted in increased application of whole exome sequencing (WES) not only for research purpose but also for clinical genetic diagnosis. We have comprehensively investigated genetic variations in Korean population using high quality deep sequenced 1,303 whole exomes. We identified 495,729 unique exonic variants, of which 73,241 and 3,366 were novel coding SNVs and INDELs, respectively. There was on average 7,136 nonsynonymous SNVs and 74 frameshift INDELs per individual.
Among the 1,049 non-silent variants identified in clinically actionable 56 genes, we reviewed 184 rare variants which were suggested to be associated with Mendelian disorder. We identified 13 pathogenic variants and 13 likely pathogenic variants within these genes with carrier frequency of 2.46% (95% CI 1.73 - 3.46).
Finally, we created a list of genes that require cautious interpretation due to high rate of sequencing error or being highly polymorphic. The variant information including annotation and allele frequency is available on request. The information provided herein, will be a useful resource for understanding human biology and discovering novel disease mutations.
The variant information including chromosome position, reference allele, alternative allele and frequency are displayed in this webpage in order to facilitate other researcher's collaboration.
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