Long-read Proteogenomics to Connect Disease-Associated Sqtls to the Protein Isoform Effectors of Disease.
AMERICAN JOURNAL OF HUMAN GENETICS（2024）
Key words
long-read RNA-seq,lrRNA-seq,GWAS,splicing quantitative trait loci,proteogenomics,protein isoform,alternative splicing,bone mineral density,PacBio,TPM2,osteoblast
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