Variants count according to NGS (WES and RNA-seq) findings in the six HS patients. The counts for the multiomics categories (ASE and RNAe) are also shown. WES: whole exome sequencing; RNA-seq: RNA sequencing; ASE: Allele Specific Expression; RNAe: RNA editing events; NDM: Nonsense-mediated mRNA decay; GoF: Gain-of-function variant.
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Variants count according to NGS (WES and RNA-seq) findings in the six HS patients. The counts for the multiomics categories (ASE and RNAe) are also shown. WES: whole exome sequencing; RNA-seq: RNA sequencing; ASE: Allele Specific Expression; RNAe: RNA editing events; NDM: Nonsense-mediated mRNA decay; GoF: Gain-of-function variant.
创建时间：
2025-06-20
