The landscape of next-generation sequencing (NGS) continues to be defined by astonishing technological progress. We continue ...

The discipline of bioinformatics integrates biology and computer science to improve our understanding of complex biological systems. Bioinformatic analysis describes the processing of biological data ...

RNA sequencing has emerged as a powerful supplement to DNA sequencing for Mendelian disease diagnosis, but clinical translation of diagnostic RNA-seq has not been widely achieved. Researchers at ...

RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this technology has not yet been determined. In a new study published in the ...