Associated Papers
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 2023
37728764 (PubMed )
Supplement: 439_2023_2592_MOESM2_ESM.xlsx › Sheet1
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases.
Hong SE et al.
Journal of Medical Genetics, 2022
35387801 (PubMed )
Supplement: jmedgenet-2021-108307supp001.xlsx › S2._PathogenicVar_WES_RNAseq
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