Purpose: We set out to develop a publicly available tool that could accurately diagnose spinal muscular atrophy (SMA) in exome, genome or panel sequencing datasets aligned to a GRCh37, GRCh38, or T2T reference genome.
Methods: The SMA Finder algorithm detects the most common genetic causes of SMA by evaluating reads that overlap the c.840 position of the SMN1 and SMN2 paralogs.
Background: The efficacy and safety of the ultrathin BioMime sirolimus-eluting coronary stent (SES) system in treating single or multiple native coronary lesions, in-stent restenosis, and bifurcation lesions have been evidenced at 1 year.
Aims: We sought to investigate the long-term safety and efficacy of the BioMime SES in a real-world population with obstructive coronary artery disease (CAD).
Methods: The prospective, single-arm, multicentre meriT-2 trial enrolled 250 patients from 11 sites across India.