Evaluation of Noninvasive Biospecimens for Transcriptome Studies

This study evaluates noninvasive biospecimens, such as hair follicles and urine cell pellets, for their potential use in transcriptome studies, involving 19 individuals. Hair follicles consistently met quality standards and showed promise due to their sample quality and relevance to disease expression data. The study developed a low-cost library preparation method, Loseq, effective for low-input RNA applications. Hair samples provided consistent gene expression profiles and captured a high percentage of genes relevant to Mendelian diseases, indicating their potential utility in clinical genomics. Urine cell pellets captured genetic regulatory mechanisms relevant to kidney disease. The study highlights the advantages of noninvasive sampling, such as cost-effectiveness and the ability to conduct longitudinal studies, although challenges like variability in RNA yield were noted. Overall, noninvasive RNA-sequencing could transform transcriptomic studies by increasing sample size and reducing sampling bias.